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NM_000157.4(GBA1):c.1343A>T (p.Asp448Val) AND Gaucher disease

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000020149.3

Allele description [Variation Report for NM_000157.4(GBA1):c.1343A>T (p.Asp448Val)]

NM_000157.4(GBA1):c.1343A>T (p.Asp448Val)

Genes:
LOC106627981:GBA recombination region [Gene]
GBA1:glucosylceramidase beta 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_000157.4(GBA1):c.1343A>T (p.Asp448Val)
Other names:
D409V
HGVS:
  • NC_000001.11:g.155235726T>A
  • NG_009783.1:g.13972A>T
  • NG_042867.1:g.2188T>A
  • NM_000157.4:c.1343A>TMANE SELECT
  • NM_001005741.3:c.1343A>T
  • NM_001005742.3:c.1343A>T
  • NM_001171811.2:c.1082A>T
  • NM_001171812.2:c.1196A>T
  • NP_000148.2:p.Asp448Val
  • NP_001005741.1:p.Asp448Val
  • NP_001005742.1:p.Asp448Val
  • NP_001165282.1:p.Asp361Val
  • NP_001165283.1:p.Asp399Val
  • NC_000001.10:g.155205517T>A
  • NM_000157.2:c.1343A>T
  • NM_001005741.2:c.1343A>T
  • P04062:p.Asp448Val
Protein change:
D361V; ASP409VAL
Links:
UniProtKB: P04062#VAR_003314; OMIM: 606463.0007; dbSNP: rs77369218
NCBI 1000 Genomes Browser:
rs77369218
Molecular consequence:
  • NM_000157.4:c.1343A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005741.3:c.1343A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005742.3:c.1343A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171811.2:c.1082A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171812.2:c.1196A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Gaucher disease
Synonyms:
Acute cerebral Gaucher disease; Cerebroside lipidosis syndrome; Gaucher splenomegaly; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018150; MedGen: C0017205

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000040476GeneReviews
no classification provided
not providedunknownliterature only

PubMed (11)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC).

Bohlega S, Kambouris M, Shahid M, Al Homsi M, Al Sous W.

Neurology. 2000 Jan 11;54(1):261-3.

PubMed [citation]
PMID:
10636167

A new variant neuropathic type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules.

Inui K, Yanagihara K, Otani K, Suzuki Y, Akagi M, Nakayama M, Ida H, Okada S.

J Pediatr. 2001 Jan;138(1):137-9.

PubMed [citation]
PMID:
11148530
See all PubMed Citations (11)

Details of each submission

From GeneReviews, SCV000040476.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (11)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Jul 29, 2023