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, |
