rs386833682
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs386833682(A;T) |
Make rs386833682(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 49420248 |
Gene | AMT |
is a | snp |
is | mentioned by |
dbSNP | rs386833682 |
dbSNP (classic) | rs386833682 |
ClinGen | rs386833682 |
ebi | rs386833682 |
HLI | rs386833682 |
Exac | rs386833682 |
Gnomad | rs386833682 |
Varsome | rs386833682 |
LitVar | rs386833682 |
Map | rs386833682 |
PheGenI | rs386833682 |
Biobank | rs386833682 |
1000 genomes | rs386833682 |
hgdp | rs386833682 |
ensembl | rs386833682 |
geneview | rs386833682 |
scholar | rs386833682 |
rs386833682 | |
pharmgkb | rs386833682 |
gwascentral | rs386833682 |
openSNP | rs386833682 |
23andMe | rs386833682 |
SNPshot | rs386833682 |
SNPdbe | rs386833682 |
MSV3d | rs386833682 |
GWAS Ctlg | rs386833682 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386833682(G;G) rs386833682(T;T) |
Alt | rs386833682(G;G) rs386833682(T;T) |
Reference | Rs386833682(A;A) |
Significance | Probable-Pathogenic |
Disease | Non-ketotic hyperglycinemia |
Variation | info |
Gene | AMT |
CLNDBN | Non-ketotic hyperglycinemia |
Reversed | 1 |
HGVS | NC_000003.11:g.49457681T>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000049643.1, |
[PMID 11286506] Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH).