NM_001005741.2(GBA):c.481C>T (p.Pro161Ser) AND Gaucher's disease, type 1

Clinical significance:Pathogenic (Last evaluated: Jan 1, 1993)

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:
RCV000004550.4

Allele description [Variation Report for NM_001005741.2(GBA):c.481C>T (p.Pro161Ser)]

NM_001005741.2(GBA):c.481C>T (p.Pro161Ser)

Gene:
GBA:glucosylceramidase beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_001005741.2(GBA):c.481C>T (p.Pro161Ser)
HGVS:
  • NC_000001.11:g.155238624G>A
  • NG_009783.1:g.11074C>T
  • NM_001005741.2:c.481C>T
  • NP_001005741.1:p.Pro161Ser
  • NC_000001.10:g.155208415G>A
  • P04062:p.Pro161Ser
Protein change:
P122S; PRO122SER
Links:
UniProtKB: P04062#VAR_003265; OMIM: 606463.0019; dbSNP: 121908299
NCBI 1000 Genomes Browser:
rs121908299
Molecular consequence:
  • NM_001005741.2:c.481C>T - 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; Orphanet: 355; Orphanet: 77259; OMIM: 230800
Age of onset:
All ages
Prevalence:
1-9 / 100 000 35577259

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000024724OMIMno assertion criteria providedPathogenic
(Jan 1, 1993)
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

Identification of six new Gaucher disease mutations.

Beutler E, Gelbart T, West C.

Genomics. 1993 Jan;15(1):203-5.

PubMed [citation]
PMID:
8432537

Details of each submission

From OMIM, SCV000024724.3

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

Description

Beutler et al. (1993) identified homozygosity for a pro122-to-ser (P122S) mutation in a 3-year-old Native American patient with Gaucher disease type I (230800) of severity score 12 and no neurologic findings. The amino acid substitution was due to a 3065C-T transition (genomic DNA sequence) and abolished a KpnI restriction site.

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

Last Updated: May 5, 2017