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rs137852870

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 8 Maple Syrup Urine Disease likely
(A;T) 3 Carrier for a maple syrup urine disease mutation
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome19
Position41424582
GeneBCKDHA
is asnp
is mentioned by
dbSNPrs137852870
dbSNP (old)rs137852870
ClinGenrs137852870
ebirs137852870
HLIrs137852870
Exacrs137852870
Gnomadrs137852870
Varsomers137852870
Maprs137852870
PheGenIrs137852870
Biobankrs137852870
1000 genomesrs137852870
hgdprs137852870
ensemblrs137852870
gopubmedrs137852870
geneviewrs137852870
scholarrs137852870
googlers137852870
pharmgkbrs137852870
gwascentralrs137852870
openSNPrs137852870
23andMers137852870
23andMe allrs137852870
SNPshotrs137852870
SNPdbers137852870
MSV3drs137852870
GWAS Ctlgrs137852870
Max Magnitude8

rs137852870, also known as c.1312T>A, p.Tyr438Asn and Y438N, represents a rare variant in the BCKDHA gene on chromosome 19.

The rs137852870(A) variant, when inherited recessively, is considered pathogenic for Maple Syrup Urine Disease. This variant is considered a founder mutation among the Old Order Mennonites of southeastern Pennsylvania.

23andMe name: i5004463

OMIM608348
Desc
Variant0001
Relatedalso
ClinVar
Risk Rs137852870(A;A)
Alt Rs137852870(A;A)
Reference Rs137852870(T;T)
Significance Pathogenic
Disease Maple syrup urine disease type 1A Maple syrup urine disease not provided
Variation info
Gene BCKDHA
CLNDBN Maple syrup urine disease type 1A Maple syrup urine disease not provided
Reversed 0
HGVS NC_000019.9:g.41930487T>A
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002473.3, RCV000055825.2, RCV000079229.6,