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rs111033744

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs111033744(A;G)
Make rs111033744(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648395
GeneGALT
is asnp
is mentioned by
dbSNPrs111033744
ebirs111033744
HLIrs111033744
Exacrs111033744
Varsomers111033744
Maprs111033744
PheGenIrs111033744
hapmaprs111033744
1000 genomesrs111033744
hgdprs111033744
ensemblrs111033744
gopubmedrs111033744
geneviewrs111033744
scholarrs111033744
googlers111033744
pharmgkbrs111033744
gwascentralrs111033744
openSNPrs111033744
23andMers111033744
23andMe allrs111033744
SNP Nexus

SNPshotrs111033744
SNPdbers111033744
MSV3drs111033744
GWAS Ctlgrs111033744
Max Magnitude0
ClinVar
Risk rs111033744(C,G;C,G)
Alt rs111033744(C,G;C,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 ARUP GALT HGMD
CLNACC RCV000022168.1, RCV000022167.5, RCV000185918.1,


[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.