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NM_001395413.1(POR):c.722+1G>A AND Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 2004
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000018404.31

Allele description [Variation Report for NM_001395413.1(POR):c.722+1G>A]

NM_001395413.1(POR):c.722+1G>A

Gene:
POR:cytochrome p450 oxidoreductase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q11.23
Genomic location:
Preferred name:
NM_001395413.1(POR):c.722+1G>A
HGVS:
  • NC_000007.14:g.75981607G>A
  • NG_008930.1:g.71506G>A
  • NM_001367562.3:c.722+1G>A
  • NM_001382655.3:c.776+1G>A
  • NM_001382657.2:c.722+1G>A
  • NM_001382658.3:c.722+1G>A
  • NM_001382659.3:c.722+1G>A
  • NM_001382662.3:c.722+1G>A
  • NM_001395413.1:c.722+1G>AMANE SELECT
  • NC_000007.13:g.75610925G>A
  • NM_000941.2:c.731+1G>A
Nucleotide change:
IVS6DS, G-A, +1
Links:
OMIM: 124015.0006; dbSNP: rs786205099
NCBI 1000 Genomes Browser:
rs786205099
Molecular consequence:
  • NM_001367562.3:c.722+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001382655.3:c.776+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001382657.2:c.722+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001382658.3:c.722+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001382659.3:c.722+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001382662.3:c.722+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001395413.1:c.722+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (ABS1)
Synonyms:
POR Deficiency
Identifiers:
MONDO: MONDO:0008726; MedGen: C3150099; OMIM: 201750

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000038686OMIM
no assertion criteria provided
Pathogenic
(Mar 1, 2004) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.

Flück CE, Tajima T, Pandey AV, Arlt W, Okuhara K, Verge CF, Jabs EW, Mendonça BB, Fujieda K, Miller WL.

Nat Genet. 2004 Mar;36(3):228-30. Epub 2004 Feb 1.

PubMed [citation]
PMID:
14758361

Details of each submission

From OMIM, SCV000038686.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the splice site mutation in the POR gene (731+1G-A) that was found in compound heterozygous state in a patient with Antley-Bixler syndrome and disordered steroidogenesis (ABS1; 201750) by Fluck et al. (2004), see 124015.0005.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 10, 2023