rs79761867
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 5 | Maple Syrup Urine disease |
| (C;G) | 4 | carrier of Maple Syrup Urine disorder allele |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 80168945 |
| Gene | BCKDHB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs79761867 |
| dbSNP (classic) | rs79761867 |
| ClinGen | rs79761867 |
| ebi | rs79761867 |
| HLI | rs79761867 |
| Exac | rs79761867 |
| Gnomad | rs79761867 |
| Varsome | rs79761867 |
| LitVar | rs79761867 |
| Map | rs79761867 |
| PheGenI | rs79761867 |
| Biobank | rs79761867 |
| 1000 genomes | rs79761867 |
| hgdp | rs79761867 |
| ensembl | rs79761867 |
| geneview | rs79761867 |
| scholar | rs79761867 |
| rs79761867 | |
| pharmgkb | rs79761867 |
| gwascentral | rs79761867 |
| openSNP | rs79761867 |
| 23andMe | rs79761867 |
| SNPshot | rs79761867 |
| SNPdbe | rs79761867 |
| MSV3d | rs79761867 |
| GWAS Ctlg | rs79761867 |
| Merged from | Rs28934895 |
| Max Magnitude | 5 |
rs79761867, formerly known as rs28934895 and more commonly known as R183P, is a mutation (rare SNP) in the branched chain keto acid dehydrogenase E1, beta polypeptide BCKDHB gene. The common allele is rs28934895(G), encoding arginine (R) at amino acid position 183.
With a frequency of about 1 in 100 among Jews of European descent, the much rarer rs28934895(C) allele encodes a proline (P), and it is the most frequent mutation leading to Maple Syrup Urine Disease, accounting for perhaps 90% of the mutations in this population group. However, by itself the mutation does not predict the severity of the disease; note also that only homozygotes (rs28934895(C;C)) are at risk for the disease.[PMID 11509994
]
This SNP is often included in screening panels for carriers of deleterious mutations among Ashkenazi Jews, such as carrier screens for prospective parental couples.
23andMe name: i3002808
| ClinVar | |
|---|---|
| Risk | rs79761867(A;A) Rs79761867(C;C) |
| Alt | rs79761867(A;A) Rs79761867(C;C) |
| Reference | Rs79761867(G;G) |
| Significance | Other |
| Disease | MAPLE SYRUP URINE DISEASE Maple syrup urine disease not provided |
| Variation | info |
| Gene | BCKDHB |
| CLNDBN | MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB Maple syrup urine disease not provided |
| Reversed | 0 |
| HGVS | NC_000006.11:g.80878662G>C |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000012715.23, RCV000056008.3, RCV000082754.3, |
