NM_000169.2(GLA):c.137A>T (p.His46Leu) AND Fabry disease

Clinical significance:Pathogenic (Last evaluated: Feb 22, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000078268.4

Allele description [Variation Report for NM_000169.2(GLA):c.137A>T (p.His46Leu)]

NM_000169.2(GLA):c.137A>T (p.His46Leu)

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.137A>T (p.His46Leu)
HGVS:
  • NC_000023.11:g.101407767T>A
  • NG_007119.1:g.5197A>T
  • NM_000169.2:c.137A>T
  • NP_000160.1:p.His46Leu
  • LRG_672t1:c.137A>T
  • LRG_672:g.5197A>T
  • LRG_672p1:p.His46Leu
  • NC_000023.10:g.100662755T>A
Protein change:
H46L
Links:
dbSNP: 398123203
NCBI 1000 Genomes Browser:
rs398123203
Molecular consequence:
  • NM_000169.2:c.137A>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Fabry disease
Synonyms:
Fabry's disease
Identifiers:
MedGen: C0002986; Orphanet: 324; OMIM: 301500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000110108EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Feb 22, 2013)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot 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 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000110108.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 3, 2017