rs121434280
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 5 | Medium-Chain Acyl-CoA Dehydrogenase Deficiency |
(C;T) | 3 | Carrier of Medium-Chain Acyl-CoA Dehydrogenase Deficiency |
(T;T) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 75732724 |
Gene | ACADM |
is a | snp |
is | mentioned by |
dbSNP | rs121434280 |
dbSNP (classic) | rs121434280 |
ClinGen | rs121434280 |
ebi | rs121434280 |
HLI | rs121434280 |
Exac | rs121434280 |
Gnomad | rs121434280 |
Varsome | rs121434280 |
LitVar | rs121434280 |
Map | rs121434280 |
PheGenI | rs121434280 |
Biobank | rs121434280 |
1000 genomes | rs121434280 |
hgdp | rs121434280 |
ensembl | rs121434280 |
geneview | rs121434280 |
scholar | rs121434280 |
rs121434280 | |
pharmgkb | rs121434280 |
gwascentral | rs121434280 |
openSNP | rs121434280 |
23andMe | rs121434280 |
SNPshot | rs121434280 |
SNPdbe | rs121434280 |
MSV3d | rs121434280 |
GWAS Ctlg | rs121434280 |
Max Magnitude | 5 |
aka c.199T>C, p.Tyr67His), Y67H (and in older literature, Y42H or Tyr42His)
According to a paper cited in OMIM, the Y42H mutation is relatively mild as ACADM mutations go, and may be a temperature-sensitive mutation, which its most deleterious effects only at increased temperatures.
ClinVar | |
---|---|
Risk | Rs121434280(C;C) |
Alt | Rs121434280(C;C) |
Reference | Rs121434280(T;T) |
Significance | Pathogenic |
Disease | Medium-chain acyl-coenzyme A dehydrogenase deficiency not provided |
Variation | info |
Gene | ACADM |
CLNDBN | Medium-chain acyl-coenzyme A dehydrogenase deficiency not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.76198409T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003780.2, RCV000185668.2, |