rs137852971
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 6 | Congenital generalized lipodystrophy, type 2 |
| (C;G) | 3 | carrier of one congenital generalized lipodystrophy allele |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 62692413 |
| Gene | BSCL2, HNRNPUL2-BSCL2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137852971 |
| dbSNP (classic) | rs137852971 |
| ClinGen | rs137852971 |
| ebi | rs137852971 |
| HLI | rs137852971 |
| Exac | rs137852971 |
| Gnomad | rs137852971 |
| Varsome | rs137852971 |
| LitVar | rs137852971 |
| Map | rs137852971 |
| PheGenI | rs137852971 |
| Biobank | rs137852971 |
| 1000 genomes | rs137852971 |
| hgdp | rs137852971 |
| ensembl | rs137852971 |
| geneview | rs137852971 |
| scholar | rs137852971 |
| rs137852971 | |
| pharmgkb | rs137852971 |
| gwascentral | rs137852971 |
| openSNP | rs137852971 |
| 23andMe | rs137852971 |
| SNPshot | rs137852971 |
| SNPdbe | rs137852971 |
| MSV3d | rs137852971 |
| GWAS Ctlg | rs137852971 |
| Max Magnitude | 6 |
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.
| 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, |
