rs80338736
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(CCC;CCC) | 0 | common in clinvar |
(D;D) | 0 | common genotype |
Make rs80338736(-;CCGGGACTGGGCC) |
Make rs80338736(CCGGGACTGGGCC;CCGGGACTGGGCC) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 1399810 |
Gene | GAMT |
is a | snp |
is | mentioned by |
dbSNP | rs80338736 |
dbSNP (classic) | rs80338736 |
ClinGen | rs80338736 |
ebi | rs80338736 |
HLI | rs80338736 |
Exac | rs80338736 |
Gnomad | rs80338736 |
Varsome | rs80338736 |
LitVar | rs80338736 |
Map | rs80338736 |
PheGenI | rs80338736 |
Biobank | rs80338736 |
1000 genomes | rs80338736 |
hgdp | rs80338736 |
ensembl | rs80338736 |
geneview | rs80338736 |
scholar | rs80338736 |
rs80338736 | |
pharmgkb | rs80338736 |
gwascentral | rs80338736 |
openSNP | rs80338736 |
23andMe | rs80338736 |
SNPshot | rs80338736 |
SNPdbe | rs80338736 |
MSV3d | rs80338736 |
GWAS Ctlg | rs80338736 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80338736(GGGACTGGGCCCC;GGGACTGGGCCCC) rs80338736(CCGGGACTGGGCC;CCGGGACTGGGCC) |
Alt | rs80338736(GGGACTGGGCCCC;GGGACTGGGCCCC) rs80338736(CCGGGACTGGGCC;CCGGGACTGGGCC) |
Reference | Rs80338736(-;-) |
Significance | Pathogenic |
Disease | Deficiency of guanidinoacetate methyltransferase |
Variation | info |
Gene | GAMT |
CLNDBN | Deficiency of guanidinoacetate methyltransferase |
Reversed | 1 |
HGVS | NC_000019.9:g.1399810_1399822dupGGCCCAGTCCCGG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008800.4, |
[PMID 8651275] Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.