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.