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rs111033773

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033773(G;T)
Make rs111033773(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649032
GeneGALT
is asnp
is mentioned by
dbSNPrs111033773
ebirs111033773
HLIrs111033773
Exacrs111033773
Varsomers111033773
Maprs111033773
PheGenIrs111033773
hapmaprs111033773
1000 genomesrs111033773
hgdprs111033773
ensemblrs111033773
gopubmedrs111033773
geneviewrs111033773
scholarrs111033773
googlers111033773
pharmgkbrs111033773
gwascentralrs111033773
openSNPrs111033773
23andMers111033773
23andMe allrs111033773
SNP Nexus

SNPshotrs111033773
SNPdbers111033773
MSV3drs111033773
GWAS Ctlgrs111033773
GMAF0.0004591
Max Magnitude0
OMIM606999
Desc
Variant0013
Relatedalso
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 ARUP GALT HGMD OMIM Allelic Variant
CLNACC RCV000003805.5, RCV000224446.1,


[PMID 103991] Altered hypothalamic-pituitary function in uraemic patients [proceedings].


[PMID 8198125OA-icon.png] 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.