NM_000169.2(GLA):c.974G>A (p.Gly325Asp) AND Fabry's disease

Clinical significance:Pathogenic (Last evaluated: Feb 8, 2013)

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000078306.3

Allele description [Variation Report for ]

NM_000169.2(GLA):c.974G>A (p.Gly325Asp)

Genes:
GLA:galactosidase, alpha [Gene - OMIM]
RPL36A-HNRNPH2:RPL36A-HNRNPH2 readthrough [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq22.1
Genomic location:
Preferred name:
NM_000169.2(GLA):c.974G>A (p.Gly325Asp)
HGVS:
  • NC_000023.11:g.101398395C>T
  • NG_007119.1:g.14569G>A
  • NM_000169.2:c.974G>A
  • NP_000160.1:p.Gly325Asp
  • NC_000023.10:g.100653383C>T
  • p.G325D:GGC>GAC
Protein change:
G325D
Links:
dbSNP: 398123228
NCBI 1000 Genomes Browser:
rs398123228
Molecular consequence:
  • NM_001199973.1:c.408+2938C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000169.2:c.974G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Fabry's disease
Synonyms:
Angiokeratoma, diffuse; Anderson-Fabry disease; Hereditary dystopic lipidosis; See all synonyms [MedGen]
Identifiers:
MedGen: C0002986; Orphanet: 324; OMIM: 301500
Age of onset:
Childhood
Prevalence:
1-5 / 10 000 324

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000110146Emory Genetics Laboratoryclassified by single submitterPathogenic
(Feb 8, 2013)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown0not providednot provided740not providedclinical testing

Citations

PubMed

Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.

Bean LJ, Tinker SW, da Silva C, Hegde MR.

Hum Mutat. 2013 Sep;34(9):1183-8. doi: 10.1002/humu.22364. Epub 2013 Aug 5.

PubMed [citation]
PMID:
23757202

Details of each submission

From Emory Genetics Laboratory, SCV000110146.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided0not providednot providedclinical testing
(GTR000502550)
PubMed (1)
2not provided0not providednot providedclinical testing
(GTR000503037)
PubMed (1)
3not provided0not providednot providedclinical testing PubMed (1)
4not provided0not providednot providedclinical testing PubMed (1)
5not provided0not providednot providedclinical testing PubMed (1)
6not provided0not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown15not providednot provided
(GTR000502550)
0not providednot providednot provided
2germlineunknown723not providednot provided
(GTR000503037)
0not providednot providednot provided
3germlineunknown2not providednot provided0not providednot providednot provided
4germlineunknownnot providednot providednot provided0not providednot providednot provided
5germlineunknownnot providednot providednot provided0not providednot providednot provided
6germlineunknownnot providednot providednot provided0not providednot providednot provided

Last Updated: Apr 24, 2015