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NM_002617.4(PEX10):c.530T>G (p.Leu177Arg) AND Peroxisome biogenesis disorder 6A (Zellweger)

Germline classification:
Uncertain significance (1 submission)
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:
RCV001250796.1

Allele description [Variation Report for NM_002617.4(PEX10):c.530T>G (p.Leu177Arg)]

NM_002617.4(PEX10):c.530T>G (p.Leu177Arg)

Gene:
PEX10:peroxisomal biogenesis factor 10 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.32
Genomic location:
Preferred name:
NM_002617.4(PEX10):c.530T>G (p.Leu177Arg)
HGVS:
  • NC_000001.11:g.2408522A>C
  • NG_008342.1:g.9050T>G
  • NM_001374425.1:c.530T>G
  • NM_001374426.1:c.98T>G
  • NM_001374427.1:c.98T>G
  • NM_002617.4:c.530T>GMANE SELECT
  • NM_153818.2:c.530T>G
  • NP_001361354.1:p.Leu177Arg
  • NP_001361355.1:p.Leu33Arg
  • NP_001361356.1:p.Leu33Arg
  • NP_002608.1:p.Leu177Arg
  • NP_722540.1:p.Leu177Arg
  • NC_000001.10:g.2339961A>C
  • NR_164636.1:n.649T>G
Protein change:
L177R
Links:
dbSNP: rs1643082013
NCBI 1000 Genomes Browser:
rs1643082013
Molecular consequence:
  • NM_001374425.1:c.530T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374426.1:c.98T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374427.1:c.98T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002617.4:c.530T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153818.2:c.530T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_164636.1:n.649T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Peroxisome biogenesis disorder 6A (Zellweger)
Synonyms:
Peroxisome biogenesis disorder 6A
Identifiers:
MONDO: MONDO:0013936; MedGen: C3553947; Orphanet: 912; OMIM: 614870

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001250619Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,
no assertion criteria provided
Uncertain significanceinheritedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,, SCV001250619.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022