ClinVar Genomic variation as it relates to human health
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)
Variation ID: 6107 Accession: VCV000006107.63
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 8q12.3 8: 64596707 (GRCh38) [ NCBI UCSC ] 8: 65509264 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Dec 6, 2016 Apr 15, 2024 Jan 29, 2024 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_004820.5:c.1456C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_004811.1:p.Arg486Cys missense NM_001324112.2:c.1234-6863C>T intron variant NC_000008.11:g.64596707G>A NC_000008.10:g.65509264G>A NG_008338.2:g.207085C>T O75881:p.Arg486Cys - Protein change
- R486C
- Other names
- -
- Canonical SPDI
- NC_000008.11:64596706:G:A
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
0.00060 (A)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00051
Trans-Omics for Precision Medicine (TOPMed) 0.00059
1000 Genomes Project 0.00060
1000 Genomes Project 30x 0.00062
Exome Aggregation Consortium (ExAC) 0.00070
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00085
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
---|---|---|---|---|---|---|
HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
CYP7B1 | - | - |
GRCh38 GRCh37 |
510 | 563 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Pathogenic/Likely pathogenic (7) |
criteria provided, multiple submitters, no conflicts
|
Feb 23, 2023 | RCV000006481.17 | |
Pathogenic (1) |
criteria provided, single submitter
|
Jan 29, 2024 | RCV000197085.12 | |
Pathogenic/Likely pathogenic (9) |
criteria provided, multiple submitters, no conflicts
|
Aug 1, 2023 | RCV000290486.40 | |
Pathogenic (1) |
criteria provided, single submitter
|
Aug 6, 2021 | RCV002476935.1 | |
Pathogenic (1) |
criteria provided, single submitter
|
Aug 5, 2023 | RCV003398453.4 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
|
Jun 23, 2023 | RCV000516130.5 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
---|---|---|---|---|---|
Pathogenic
(May 18, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary spastic paraplegia 5A
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV000474688.3
First in ClinVar: Dec 06, 2016 Last updated: May 24, 2019 |
Comment:
The CYP7B1 c.1456C>T (p.Arg486Cys) missense variant has been reported in at least six studies in individuals with an autosomal recessive form of spastic paraplegia, in … (more)
The CYP7B1 c.1456C>T (p.Arg486Cys) missense variant has been reported in at least six studies in individuals with an autosomal recessive form of spastic paraplegia, in which it was found in a homozygous state in three individuals and in a compound heterozygous state in nine individuals, including two siblings (Goizet et al. 2009; Schlipf et al. 2011; Noreau et al. 2012; Kumar et al. 2013; Roos et al. 2014; Kara et al. 2016). In at least seven of the compound heterozygotes the second variant was a frameshift or stop-gained variant. The p.Arg486Cys variant was absent from 494 control alleles and is reported at a frequency of 0.00298 in the European population of the 1000 Genomes Project. Based on the evidence, the p.Arg486Cys variant is classified as pathogenic for an autosomal recessive form of spastic paraplegia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. (less)
|
|
Pathogenic
(Oct 23, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
(Unknown mechanism)
Affected status: yes
Allele origin:
germline
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV001447079.1
First in ClinVar: Nov 28, 2020 Last updated: Nov 28, 2020 |
Clinical Features:
Spastic gait (present) , Urinary incontinence (present)
Sex: male
|
|
Pathogenic
(Dec 12, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary spastic paraplegia
Affected status: yes
Allele origin:
germline
|
Genome Diagnostics Laboratory, The Hospital for Sick Children
Accession: SCV002104551.1
First in ClinVar: Mar 19, 2022 Last updated: Mar 19, 2022 |
|
|
Likely pathogenic
(Feb 04, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary spastic paraplegia 5A
Affected status: yes
Allele origin:
germline
|
MGZ Medical Genetics Center
Accession: SCV002580725.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022 |
Number of individuals with the variant: 2
Sex: male
|
|
Pathogenic
(Aug 06, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary spastic paraplegia 5A
Congenital bile acid synthesis defect 3
Affected status: unknown
Allele origin:
unknown
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV002789040.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
|
|
Pathogenic
(Aug 05, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
CYP7B1-related condition
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV004103442.1
First in ClinVar: Nov 20, 2023 Last updated: Nov 20, 2023 |
Comment:
The CYP7B1 c.1456C>T variant is predicted to result in the amino acid substitution p.Arg486Cys. This variant has been reported in either the homozygous state or … (more)
The CYP7B1 c.1456C>T variant is predicted to result in the amino acid substitution p.Arg486Cys. This variant has been reported in either the homozygous state or compound heterozygous state in many patients with spastic paraplegia (Goizet et al. 2009. PubMed ID: 19439420; Schlipf et al. 2011. PubMed ID: 21623769; Roos et al. 2014. PubMed ID: 24117163; Kumar KR et al 2013. PubMed ID: 23812641). This variant is reported in 0.098% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/8-65509264-G-A) and is reported as pathogenic or likely pathogenic in ClinVar by many outside laboratories (https://0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk/clinvar/variation/6107/). This variant is interpreted as pathogenic. (less)
|
|
Pathogenic
(Mar 03, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Not provided
Affected status: unknown
Allele origin:
germline
|
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001713465.2
First in ClinVar: Jun 15, 2021 Last updated: Jan 26, 2024 |
Comment:
PP1, PP4, PM2, PM3, PS4
Number of individuals with the variant: 4
|
|
Likely pathogenic
(Feb 17, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Revvity Omics, Revvity
Accession: SCV003830324.2
First in ClinVar: Mar 04, 2023 Last updated: Feb 04, 2024 |
|
|
Pathogenic
(Aug 01, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV001249591.20
First in ClinVar: May 12, 2020 Last updated: Apr 15, 2024 |
Comment:
CYP7B1: PM3:Very Strong, PM2:Supporting, PP1, PP4
Number of individuals with the variant: 7
|
|
Pathogenic
(Mar 07, 2017)
|
criteria provided, single submitter
Method: research
|
Hereditary spastic paraplegia
Affected status: yes
Allele origin:
inherited
|
Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde
Accession: SCV000574445.1
First in ClinVar: Dec 10, 2017 Last updated: Dec 10, 2017 |
|
|
Likely pathogenic
(Apr 20, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000708198.2
First in ClinVar: Feb 18, 2017 Last updated: Mar 08, 2017 |
Number of individuals with the variant: 5
Sex: mixed
|
|
Pathogenic
(-)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary spastic paraplegia 5A
Affected status: yes
Allele origin:
unknown
|
Paris Brain Institute, Inserm - ICM
Accession: SCV001451304.1
First in ClinVar: May 16, 2021 Last updated: May 16, 2021 |
Number of individuals with the variant: 6
|
|
Likely pathogenic
(-)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary spastic paraplegia 5A
Affected status: yes
Allele origin:
germline
|
Genomics England Pilot Project, Genomics England
Accession: SCV001760219.1
First in ClinVar: Jul 27, 2021 Last updated: Jul 27, 2021 |
|
|
Pathogenic
(Mar 18, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Athena Diagnostics Inc
Accession: SCV000613054.4
First in ClinVar: Mar 08, 2017 Last updated: Dec 31, 2022 |
Comment:
The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). In multiple individuals with spastic paraplegia, this variant has been seen … (more)
The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). In multiple individuals with spastic paraplegia, this variant has been seen with a single recessive pathogenic variant in the same gene. Computational tools predict that this variant is damaging. (less)
|
|
Pathogenic
(Jul 08, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000330027.7
First in ClinVar: Dec 06, 2016 Last updated: Mar 04, 2023 |
Comment:
In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 20981092, … (more)
In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 20981092, 25073475, 24927729, 27077743, 21623769, 24117163, 21541746, 23812641, 28832565, 22384504, 27217339, 27957547, 27879216, 32202070, 31980526, 19439420) (less)
|
|
Likely pathogenic
(Feb 23, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary spastic paraplegia 5A
Affected status: yes
Allele origin:
unknown
|
3billion
Accession: SCV003841533.1
First in ClinVar: Mar 18, 2023 Last updated: Mar 18, 2023 |
Comment:
The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.052%). In silico tool predictions suggest damaging effect … (more)
The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.052%). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.67; 3Cnet: 0.94). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000006107). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline. (less)
Clinical Features:
Spastic tetraplegia (present) , Cerebellar ataxia (present) , Spastic paraplegia (present) , Polyneuropathy (present) , Tremor (present) , Dystonic disorder (present) , Amyotrophic lateral sclerosis … (more)
Spastic tetraplegia (present) , Cerebellar ataxia (present) , Spastic paraplegia (present) , Polyneuropathy (present) , Tremor (present) , Dystonic disorder (present) , Amyotrophic lateral sclerosis (present) , Muscular atrophy (present) (less)
|
|
Pathogenic
(Jun 23, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary spastic paraplegia
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV004020995.1
First in ClinVar: Jul 29, 2023 Last updated: Jul 29, 2023 |
Comment:
Variant summary: CYP7B1 c.1456C>T (p.Arg486Cys) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging … (more)
Variant summary: CYP7B1 c.1456C>T (p.Arg486Cys) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00052 in 250608 control chromosomes (gnomAD). This frequency is not significantly higher than estimated for a pathogenic variant in CYP7B1 causing Hereditary Spastic Paraplegia, Type 5a (0.00052 vs 0.0011), allowing no conclusion about variant significance. c.1456C>T has been reported in the literature as a biallelic genotype in multiple individuals affected with Hereditary Spastic Paraplegia, Type 5a (e.g. Goizet_2009, Schlipf_2011, Kumar_2013, Roos_2014). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 19439420, 23812641, 24117163, 21623769). Fifteen ClinVar submitters have assessed the variant since 2014: five classified the variant as likely pathogenic and ten as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
|
|
Pathogenic
(Jan 29, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Spastic paraplegia
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000253708.12
First in ClinVar: Oct 11, 2015 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 486 of the CYP7B1 protein … (more)
This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 486 of the CYP7B1 protein (p.Arg486Cys). This variant is present in population databases (rs116171274, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individuals with hereditary spastic paraplegia. In these individuals, this variant was observed in either the homozygous state or compound heterozygous state (PMID: 19439420, 21623769, 23812641, 24117163). ClinVar contains an entry for this variant (Variation ID: 6107). An algorithm developed specifically for the CYP7B1 gene suggests that this missense change is likely to be deleterious (PMID: 21541746). For these reasons, this variant has been classified as Pathogenic. (less)
|
|
Pathogenic
(Sep 03, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary spastic paraplegia 5A
Affected status: yes
Allele origin:
germline
|
Molecular Genetics, Royal Melbourne Hospital
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV002498645.2
First in ClinVar: Apr 11, 2022 Last updated: Apr 15, 2024 |
Comment:
This sequence change in CYP7B1 is predicted to replace arginine with cysteine at codon 486 (p.(Arg486Cys)). The arginine residue is highly conserved (100 vertebrates, UCSC), … (more)
This sequence change in CYP7B1 is predicted to replace arginine with cysteine at codon 486 (p.(Arg486Cys)). The arginine residue is highly conserved (100 vertebrates, UCSC), and is located in the cytochrome P450 domain. There is a large physicochemical difference between arginine and cysteine. The highest population minor allele frequency in gnomAD v2.1 is 0.1% (126/128,798 alleles, 0 homozygotes) in European (non-Finnish) population. The variant has been reported to segregate with spastic paraplegia in two affected family members from one family (PMID: 22384504 ). This variant has been detected in at least 16 individuals with pure or complicated hereditary spastic paraplegia (HSP). Of those individuals, five individuals were homozygous and eight were compound heterozygous for the variant and a pathogenic or likely pathogenic variant (PMID: 1943942, 21623769, 22384504, 23812641, 24117163, 27217339, 29228183). At least one patient with this variant displayed increased plasma 25-hydroxycholesterol (25-OHC) and 27-hydroxycholesterol (27-OHC) ratio to total cholesterol, which is highly specific for CYP7B1-related HSP (PMID: 29228183). Multiple lines of computational evidence predict a deleterious effect for the missense substitution (5/6 algorithms). Based on the classification scheme RMH Modified ACMG Guidelines v1.4.0, this variant is classified as PATHOGENIC. Following criteria are met: PM3_VeryStrong, PP1, PP3, PP4. (less)
|
|
Pathogenic
(Jun 01, 2009)
|
no assertion criteria provided
Method: literature only
|
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000026664.2
First in ClinVar: Apr 04, 2013 Last updated: Feb 18, 2017 |
Comment on evidence:
In 2 affected members of a consanguineous Portuguese family with spastic paraplegia-5A (SPG5A; 270800), Goizet et al. (2009) identified a homozygous 1456C-T transition in exon … (more)
In 2 affected members of a consanguineous Portuguese family with spastic paraplegia-5A (SPG5A; 270800), Goizet et al. (2009) identified a homozygous 1456C-T transition in exon 6 of the CYP7B1 gene, resulting in an arg486-to-cys (R486C) substitution in a highly conserved region. The proband was a 60-year-old woman with onset of spastic paraplegia at age 47 years. She was mild to moderately affected in the lower limbs, with decreased vibratory sensation and urinary symptoms. She also had chronic liver disease with mild elevation of liver enzymes. Liver biopsy showed mild portal and periportal fibrosis with moderate inflammatory infiltration and piecemeal necrosis consistent with unspecific chronic hepatitis. Bile ducts were normal, and there was no cholestasis. Serum samples showed antinuclear antibody, and she was classified as having autoimmune hepatitis, which Goizet et al. (2009) concluded was a fortuitous association and not due to an error in bile acid synthesis. A younger brother had spastic paraplegia, and an elder brother died from cirrhosis of unknown cause at age 40 years. (less)
|
|
Likely pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001741913.3 First in ClinVar: Jul 07, 2021 Last updated: Sep 08, 2021 |
|
|
Likely pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001957403.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
|
|
click to load more click to collapse |
Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5. | Marelli C | Brain : a journal of neurology | 2018 | PMID: 29228183 |
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. | Morais S | European journal of human genetics : EJHG | 2017 | PMID: 28832565 |
Clinical and genetic study of hereditary spastic paraplegia in Canada. | Chrestian N | Neurology. Genetics | 2016 | PMID: 27957547 |
Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous R486C mutation in CYP7B1 (SPG5). | Höflinger P | Stem cell research | 2016 | PMID: 27879216 |
Genetic and phenotypic characterization of complex hereditary spastic paraplegia. | Kara E | Brain : a journal of neurology | 2016 | PMID: 27217339 |
Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study. | Martinuzzi A | PloS one | 2016 | PMID: 27077743 |
Structural characterization of human cholesterol 7α-hydroxylase. | Tempel W | Journal of lipid research | 2014 | PMID: 24927729 |
CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A. | Roos P | Acta neurologica Scandinavica | 2014 | PMID: 24117163 |
Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia. | Kumar KR | Journal of neurology | 2013 | PMID: 23812641 |
CYP7B1 mutations in French-Canadian hereditary spastic paraplegia subjects. | Noreau A | The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques | 2012 | PMID: 22384504 |
Comparative modeling of 25-hydroxycholesterol-7α-hydroxylase (CYP7B1): ligand binding and analysis of hereditary spastic paraplegia type 5 CYP7B1 mutations. | Siam A | Journal of molecular modeling | 2012 | PMID: 21541746 |
Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients. | Schlipf NA | Clinical genetics | 2011 | PMID: 21623769 |
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. | Goizet C | Brain : a journal of neurology | 2009 | PMID: 19439420 |
Hypercholesterolaemia due to familial defective apolipoprotein B-100 in two Australian families. | Hosking JL | The Medical journal of Australia | 1991 | PMID: 1943942 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CYP7B1 | - | - | - | - |
click to load more click to collapse |
Text-mined citations for rs116171274 ...
HelpRecord last updated Apr 15, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.