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rs111033728

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033728(C;C)
Make rs111033728(C;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648353
GeneGALT
is asnp
is mentioned by
dbSNPrs111033728
ebirs111033728
HLIrs111033728
Exacrs111033728
Varsomers111033728
Maprs111033728
PheGenIrs111033728
hapmaprs111033728
1000 genomesrs111033728
hgdprs111033728
ensemblrs111033728
gopubmedrs111033728
geneviewrs111033728
scholarrs111033728
googlers111033728
pharmgkbrs111033728
gwascentralrs111033728
openSNPrs111033728
23andMers111033728
23andMe allrs111033728
SNP Nexus

SNPshotrs111033728
SNPdbers111033728
MSV3drs111033728
GWAS Ctlgrs111033728
Max Magnitude0
ClinVar
Risk rs111033728(C;C)
Alt rs111033728(C;C)
Reference rs111033728(T;T)
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.34648350T>C
CLNSRC ARUP GALT HGMD
CLNACC RCV000022158.5, RCV000224416.1,


[PMID 819812] [Editorial: The pros and cons of tonsillectomy].


[PMID 1373122] Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia.


[PMID 12552079OA-icon.png] Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia.


[PMID 17079880] Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase (GALT) gene.


[PMID 17486650] Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene.


[PMID 17876724] Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene.