rs111033773
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Carrier of a GALT gene mutation |
| (T;T) | 8 | Galactosemia (predicted); see discussion |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 34649032 |
| Gene | GALT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033773 |
| dbSNP (classic) | rs111033773 |
| ClinGen | rs111033773 |
| ebi | rs111033773 |
| HLI | rs111033773 |
| Exac | rs111033773 |
| Gnomad | rs111033773 |
| Varsome | rs111033773 |
| LitVar | rs111033773 |
| Map | rs111033773 |
| PheGenI | rs111033773 |
| Biobank | rs111033773 |
| 1000 genomes | rs111033773 |
| hgdp | rs111033773 |
| ensembl | rs111033773 |
| geneview | rs111033773 |
| scholar | rs111033773 |
| rs111033773 | |
| pharmgkb | rs111033773 |
| gwascentral | rs111033773 |
| openSNP | rs111033773 |
| 23andMe | rs111033773 |
| SNPshot | rs111033773 |
| SNPdbe | rs111033773 |
| MSV3d | rs111033773 |
| GWAS Ctlg | rs111033773 |
| GMAF | 0.0004591 |
| Max Magnitude | 8 |
aka c.855G>T (p.Lys285Asn or K285N)
| ClinVar | |
|---|---|
| Risk | Rs111033773(T;T) |
| Alt | Rs111033773(T;T) |
| Reference | Rs111033773(G;G) |
| 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.34649029G>T |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000003805.6, RCV000224446.1, |
[PMID 103991] Altered hypothalamic-pituitary function in uraemic patients [proceedings].
[PMID 8198125
] A common mutation associated with the Duarte galactosemia allele.
[PMID 10649501] Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R).
[PMID 10960497] Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes.
[PMID 11754113] Molecular analysis in newborns from Texas affected with galactosemia.
[PMID 19375122] An update on the molecular analysis of classical galactosaemia patients diagnosed in Spain and Portugal: 7 new mutations in 17 new families.
