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rs137852971

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;G) 3 carrier of one congenital generalized lipodystrophy allele
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome11
Position62692413
GeneBSCL2
is asnp
is mentioned by
dbSNPrs137852971
ebirs137852971
HLIrs137852971
Exacrs137852971
Varsomers137852971
Maprs137852971
PheGenIrs137852971
hapmaprs137852971
1000 genomesrs137852971
hgdprs137852971
ensemblrs137852971
gopubmedrs137852971
geneviewrs137852971
scholarrs137852971
googlers137852971
pharmgkbrs137852971
gwascentralrs137852971
openSNPrs137852971
23andMers137852971
23andMe allrs137852971
SNP Nexus

SNPshotrs137852971
SNPdbers137852971
MSV3drs137852971
GWAS Ctlgrs137852971
Max Magnitude3

rs137852971, also known as c.826G>C, p.Ala276Pro and A276P, represents a very rare mutation in the BSCL2 gene on chromosome 11.

The rs137852971(C) allele is reported to lead to congenital generalized lipodystrophy, type 2, when inherited in two copies or as a compound heterozygote.[PMID 11479539]

This SNP is referred to as i5006200 by 23andMe; note that it is represented by them on the other strand, so i5006200(C;C) is the common (and normal) genotype in raw data from that company.

OMIM606158
Desc
Variant0009
Relatedalso
ClinVar
Risk rs137852971(C;C)
Alt rs137852971(C;C)
Reference rs137852971(G;G)
Significance Pathogenic
Disease Congenital generalized lipodystrophy type 2
Variation info
Gene HNRNPUL2-BSCL2 BSCL2
CLNDBN Congenital generalized lipodystrophy type 2
Reversed 1
HGVS NC_000011.9:g.62459885C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004797.3,