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rs111033800

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033800(C;G)
Make rs111033800(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649502
GeneGALT
is asnp
is mentioned by
dbSNPrs111033800
ebirs111033800
HLIrs111033800
Exacrs111033800
Varsomers111033800
Maprs111033800
PheGenIrs111033800
hapmaprs111033800
1000 genomesrs111033800
hgdprs111033800
ensemblrs111033800
gopubmedrs111033800
geneviewrs111033800
scholarrs111033800
googlers111033800
pharmgkbrs111033800
gwascentralrs111033800
openSNPrs111033800
23andMers111033800
23andMe allrs111033800
SNP Nexus

SNPshotrs111033800
SNPdbers111033800
MSV3drs111033800
GWAS Ctlgrs111033800
Max Magnitude0
OMIM606999
Desc
Variant0002
Relatedalso
OMIM606999
Desc
Variant0015
Relatedalso
ClinVar
Risk rs111033800(G,T;G,T)
Alt rs111033800(G,T;G,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 ARUP GALT OMIM Allelic Variant HGMD
CLNACC RCV000003807.3, RCV000003794.6,


[PMID 7550229] Molecular characterization of galactosemia (type 1) mutations in Japanese.


[PMID 8692963OA-icon.png] 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.