rs111033744
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;C) | 3 | Carrier of a GALT gene mutation |
| (A;G) | 3 | Carrier of a GALT gene mutation |
| (C;C) | 8 | Galactosemia (predicted); see discussion |
| (G;G) | 8 | Galactosemia (predicted); see discussion |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 34648395 |
| Gene | GALT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033744 |
| dbSNP (classic) | rs111033744 |
| ClinGen | rs111033744 |
| ebi | rs111033744 |
| HLI | rs111033744 |
| Exac | rs111033744 |
| Gnomad | rs111033744 |
| Varsome | rs111033744 |
| LitVar | rs111033744 |
| Map | rs111033744 |
| PheGenI | rs111033744 |
| Biobank | rs111033744 |
| 1000 genomes | rs111033744 |
| hgdp | rs111033744 |
| ensembl | rs111033744 |
| geneview | rs111033744 |
| scholar | rs111033744 |
| rs111033744 | |
| pharmgkb | rs111033744 |
| gwascentral | rs111033744 |
| openSNP | rs111033744 |
| 23andMe | rs111033744 |
| SNPshot | rs111033744 |
| SNPdbe | rs111033744 |
| MSV3d | rs111033744 |
| GWAS Ctlg | rs111033744 |
| Max Magnitude | 8 |
c.626A>C (p.Tyr209Ser) and c.626A>G (p.Tyr209Cys)
23andMe name for c.626A>G: i5012729
| ClinVar | |
|---|---|
| Risk | Rs111033744(C;C) Rs111033744(G;G) |
| Alt | Rs111033744(C;C) Rs111033744(G;G) |
| Reference | Rs111033744(A;A) |
| Significance | Pathogenic |
| Disease | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not provided |
| Variation | info |
| Gene | GALT |
| CLNDBN | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not provided |
| Reversed | 0 |
| HGVS | NC_000009.11:g.34648392A>C; NC_000009.11:g.34648392A>G |
| CLNSRC | UniProtKB (protein) HGMD |
| CLNACC | RCV000022168.1, RCV000022167.6, RCV000185918.2, |
[PMID 17884] Radiosensitization of hypoxic mammalian cells by diamide. II. Studies of mechanism.
[PMID 10408771] Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.
[PMID 12491926] Molecular detection of galactosemia mutations by PCR-ELISA.
[PMID 12595586] Verbal dyspraxia and galactosemia.
[PMID 17079880] Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase (GALT) gene.
[PMID 17876724] Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene.
