GBA:c.586A>C (p.Lys196Gln) AND Gaucher's disease, type 1

Clinical significance:Pathogenic (Last evaluated: Feb 20, 2014)

Review status:

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000004539.3

Allele description [Variation Report for GBA:c.586A>C (p.Lys196Gln)]

Gene:
GBA:glucosidase, beta, acid [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
GBA:c.586A>C (p.Lys196Gln)
HGVS:
  • NC_000001.11:g.155238519T>G
  • NG_009783.1:g.11179A>C
  • NM_001005741.2:c.586A>C
  • NP_001005741.1:p.Lys196Gln
  • NC_000001.10:g.155208310T>G
Protein change:
K157Q; LYS157GLN
Links:
OMIM: 606463.0012; dbSNP: 121908297
NCBI 1000 Genomes Browser:
rs121908297
Molecular consequence:
  • NM_001005741.2:c.586A>C: missense variant [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Gaucher's disease, type 1
Synonyms:
GBA DEFICIENCY; GD I; Gaucher Disease, Type 1; See all synonyms [MedGen]
Identifiers:
MedGen: C1961835; OMIM: 230800; Orphanet: 355; Orphanet: 77259
Age of onset:
Variable
Prevalence:
1-9 / 100 000 35577259

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000024713OMIMPathogenic
(Feb 20, 2014)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Three unique base pair changes in a family with Gaucher disease.

Eyal N, Firon N, Wilder S, Kolodny EH, Horowitz M.

Hum Genet. 1991 Jul;87(3):328-32.

PubMed [citation]
PMID:
1864608

Details of each submission

From OMIM, SCV000024713.3

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

See 606463.0011 and Eyal et al. (1991).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 27, 2014

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