rs137852870
From SNPedia
Orientation | plus |
Stabilized | plus |
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 |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 41424582 |
Gene | BCKDHA |
is a | snp |
is | mentioned by |
dbSNP | rs137852870 |
dbSNP (classic) | rs137852870 |
ClinGen | rs137852870 |
ebi | rs137852870 |
HLI | rs137852870 |
Exac | rs137852870 |
Gnomad | rs137852870 |
Varsome | rs137852870 |
LitVar | rs137852870 |
Map | rs137852870 |
PheGenI | rs137852870 |
Biobank | rs137852870 |
1000 genomes | rs137852870 |
hgdp | rs137852870 |
ensembl | rs137852870 |
geneview | rs137852870 |
scholar | rs137852870 |
rs137852870 | |
pharmgkb | rs137852870 |
gwascentral | rs137852870 |
openSNP | rs137852870 |
23andMe | rs137852870 |
SNPshot | rs137852870 |
SNPdbe | rs137852870 |
MSV3d | rs137852870 |
GWAS Ctlg | rs137852870 |
Max Magnitude | 8 |
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
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, |