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rs1064651

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;G) 3 carrier of Gaucher disease allele
(G;G) 8 possibly Gaucher's disease, but more likely a mis-oriented interpretation
ReferenceGRCh38 38.1/141
Chromosome1
Position155205518
GeneGBA
is asnp
is mentioned by
dbSNPrs1064651
ebirs1064651
HLIrs1064651
Exacrs1064651
Varsomers1064651
Maprs1064651
PheGenIrs1064651
hapmaprs1064651
1000 genomesrs1064651
hgdprs1064651
ensemblrs1064651
gopubmedrs1064651
geneviewrs1064651
scholarrs1064651
googlers1064651
pharmgkbrs1064651
gwascentralrs1064651
openSNPrs1064651
23andMers1064651
23andMe allrs1064651
SNP Nexus

SNPshotrs1064651
SNPdbers1064651
MSV3drs1064651
GWAS Ctlgrs1064651
Max Magnitude8

rs1064651, also known as Asp448His or D448H, is a SNP in exon 9 of the GBA gene on chromosome 1. As the protein was originally numbered, though, this variation occurred at amino acid 409 (rather than 448), so the scientific literature still often refers to this mutation as Asp409His or D409H.

Mutations in both copies of a person's GBA gene may lead to Gaucher's disease, an autosomal recessive disorder. When one of the mutations is the D409H mutation, the clinical description may be Gaucher disease type 3C, involving valvular heart disease. However, the clinical presentation appears to be highly variable as well as dependent on which two mutations are present. For more information, see OMIM 606463.0006.

Be aware that since this mutation is due to a G>C (tranversion) when oriented in the direction the gene is transcribed, interpretation can be problematic due to orientation issues involving ambiguous flips. To make matters even more confusing, in the past, dbSNP (erroneously) defined the minus strand 'ancestral' (i.e. normal) allele as C, although it currently (correctly) defines the minus strand ancestral allele as G. In SNPedia, the orientation is set to the plus strand, which means the normal allele (for the plus strand) is C. This is also the orientation currently used by 23andMe.

OMIM606463
DescGAUCHER DISEASE, TYPE IIIC
Variant0006
Relatedalso
Neighborrs2230288
Distance649
OMIM606463
Desc
Variant0047
Relatedalso


ClinVar
Risk rs1064651(C;C)
Alt rs1064651(C;C)
Reference rs1064651(G;G)
Significance Pathogenic
Disease Gaucher disease type 3C Gaucher's disease Acute neuronopathic Gaucher's disease Subacute neuronopathic Gaucher's disease Gaucher disease Gaucher disease not provided
Variation info
Gene GBA
CLNDBN Gaucher disease type 3C Gaucher's disease, type 1 Acute neuronopathic Gaucher's disease Subacute neuronopathic Gaucher's disease Gaucher disease, perinatal lethal Gaucher disease not provided
Reversed 1
HGVS NC_000001.10:g.155205518C>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000004522.5, RCV000004523.6, RCV000004524.5, RCV000004525.5, RCV000004526.5, RCV000004580.2, RCV000004581.2, RCV000055773.1, RCV000079338.3,