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rs111033790

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033790(A;A)
Make rs111033790(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649452
GeneGALT
is asnp
is mentioned by
dbSNPrs111033790
ebirs111033790
HLIrs111033790
Exacrs111033790
Varsomers111033790
Maprs111033790
PheGenIrs111033790
hapmaprs111033790
1000 genomesrs111033790
hgdprs111033790
ensemblrs111033790
gopubmedrs111033790
geneviewrs111033790
scholarrs111033790
googlers111033790
pharmgkbrs111033790
gwascentralrs111033790
openSNPrs111033790
23andMers111033790
23andMe allrs111033790
SNP Nexus

SNPshotrs111033790
SNPdbers111033790
MSV3drs111033790
GWAS Ctlgrs111033790
Max Magnitude0
ClinVar
Risk rs111033790(A;A)
Alt rs111033790(A;A)
Reference rs111033790(G;G)
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.34649449G>A
CLNSRC ARUP GALT
CLNACC RCV000022235.4,


[PMID 8598637] Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants.


[PMID 8892021] Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.


[PMID 9686364] Duarte-1 (Los Angeles) and Duarte-2 (Duarte) variants in Germany: two new mutations in the GALT gene which cause a GALT activity decrease by 40-50% of normal in red cells.


[PMID 9766850] Simultaneous occurrence of various mutations and polymorphisms in cis and in trans of the galactose-1-phosphate uridyltransferase gene in a Turkish family with classical galactosemia.


[PMID 10384398] Molecular and biochemical basis for variants and deficiency forms of galactose-1-phosphate uridyltransferase.


[PMID 10408771] Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.