rs111033800
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs111033800(C;G) |
| Make rs111033800(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 34649502 |
| Gene | GALT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033800 |
| dbSNP (classic) | rs111033800 |
| ClinGen | rs111033800 |
| ebi | rs111033800 |
| HLI | rs111033800 |
| Exac | rs111033800 |
| Gnomad | rs111033800 |
| Varsome | rs111033800 |
| LitVar | rs111033800 |
| Map | rs111033800 |
| PheGenI | rs111033800 |
| Biobank | rs111033800 |
| 1000 genomes | rs111033800 |
| hgdp | rs111033800 |
| ensembl | rs111033800 |
| geneview | rs111033800 |
| scholar | rs111033800 |
| rs111033800 | |
| pharmgkb | rs111033800 |
| gwascentral | rs111033800 |
| openSNP | rs111033800 |
| 23andMe | rs111033800 |
| SNPshot | rs111033800 |
| SNPdbe | rs111033800 |
| MSV3d | rs111033800 |
| GWAS Ctlg | rs111033800 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs111033800(G;G) rs111033800(T;T) |
| Alt | rs111033800(G;G) rs111033800(T;T) |
| Reference | Rs111033800(C;C) |
| Significance | Other |
| Disease | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| Variation | info |
| Gene | GALT |
| CLNDBN | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| Reversed | 0 |
| HGVS | NC_000009.11:g.34649499C>G; NC_000009.11:g.34649499C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) HGMD |
| CLNACC | RCV000003807.3, RCV000003794.7, |
[PMID 7550229] Molecular characterization of galactosemia (type 1) mutations in Japanese.
[PMID 8692963
] Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase.
[PMID 8892021] Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.
[PMID 10573007] Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients.
[PMID 20008339] Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach.
[PMID 20547145] Molecular and biochemical characterization of the GALT gene in Korean patients with galactose-1-phosphate uridyltransferase deficiency.
