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rs79761867

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome6
Position80168945
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs79761867
ebirs79761867
HLIrs79761867
Exacrs79761867
Varsomers79761867
Maprs79761867
PheGenIrs79761867
hapmaprs79761867
1000 genomesrs79761867
hgdprs79761867
ensemblrs79761867
gopubmedrs79761867
geneviewrs79761867
scholarrs79761867
googlers79761867
pharmgkbrs79761867
gwascentralrs79761867
openSNPrs79761867
23andMers79761867
23andMe allrs79761867
SNP Nexus

SNPshotrs79761867
SNPdbers79761867
MSV3drs79761867
GWAS Ctlgrs79761867
Merged fromRs28934895
Max Magnitude5
OMIM248611
Desc
Variant0002
Relatedalso
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 11509994OA-icon.png]

This SNP is often included in screening panels for carriers of deleterious mutations among Ashkenazi Jews, such as carrier screens for prospective parental couples.


ClinVar
Risk rs79761867(C;C)
Alt rs79761867(C;C)
Reference rs79761867(G;G)
Significance Pathogenic
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
CLNACC RCV000012715.23, RCV000056008.2, RCV000082754.3,