NM_000169.2(GLA):c.58G>C (p.Ala20Pro) AND Fabry disease, cardiac variant

Clinical significance:Pathogenic (Last evaluated: Aug 3, 1995)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000011511.2

Allele description [Variation Report for NM_000169.2(GLA):c.58G>C (p.Ala20Pro)]

NM_000169.2(GLA):c.58G>C (p.Ala20Pro)

Genes:
RPL36A-HNRNPH2:RPL36A-HNRNPH2 readthrough [Gene - HGNC]
GLA:galactosidase alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq22.1
Genomic location:
Preferred name:
NM_000169.2(GLA):c.58G>C (p.Ala20Pro)
HGVS:
  • NC_000023.11:g.101407846C>G
  • NG_007119.1:g.5118G>C
  • NM_000169.2:c.58G>C
  • NP_000160.1:p.Ala20Pro
  • LRG_672t1:c.58G>C
  • LRG_672:g.5118G>C
  • LRG_672p1:p.Ala20Pro
  • NC_000023.10:g.100662834C>G
  • P06280:p.Ala20Pro
  • p.A20P
Protein change:
A20P; ALA20PRO
Links:
UniProtKB: P06280#VAR_012362; OMIM: 300644.0052; dbSNP: 104894847
NCBI 1000 Genomes Browser:
rs104894847
Molecular consequence:
  • NM_000169.2:c.58G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Fabry disease, cardiac variant
Identifiers:
MedGen: C1970820

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000031743OMIMno assertion criteria providedPathogenic
(Aug 3, 1995)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

An atypical variant of Fabry's disease in men with left ventricular hypertrophy.

Nakao S, Takenaka T, Maeda M, Kodama C, Tanaka A, Tahara M, Yoshida A, Kuriyama M, Hayashibe H, Sakuraba H, et al.

N Engl J Med. 1995 Aug 3;333(5):288-93.

PubMed [citation]
PMID:
7596372

Details of each submission

From OMIM, SCV000031743.1

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

Description

See 300644.0051 and Nakao et al. (1995).

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

Last Updated: Sep 5, 2017