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rs75391579

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier of a GALT gene mutation
(G;G) 8 Galactosemia (predicted); see discussion
ReferenceGRCh38 38.1/141
Chromosome9
Position34648170
GeneGALT
is asnp
is mentioned by
dbSNPrs75391579
dbSNP (old)rs75391579
ClinGenrs75391579
ebirs75391579
HLIrs75391579
Exacrs75391579
Gnomadrs75391579
Varsomers75391579
Maprs75391579
PheGenIrs75391579
Biobankrs75391579
1000 genomesrs75391579
hgdprs75391579
ensemblrs75391579
gopubmedrs75391579
geneviewrs75391579
scholarrs75391579
googlers75391579
pharmgkbrs75391579
gwascentralrs75391579
openSNPrs75391579
23andMers75391579
23andMe allrs75391579
SNP Nexus

SNPshotrs75391579
SNPdbers75391579
MSV3drs75391579
GWAS Ctlgrs75391579
GMAF0.001377
Max Magnitude8

rs75391579, also known as c.563A>G, p.Gln188Arg and Q188R, represents a variant in the GALT gene on chromosome 9.

The rs75391579(G) allele is considered a pathogenic mutation associated with galactosemia, a recessively inherited disorder typically first diagnosed in newborns. This mutation has been reported as one of the most frequently occurring GALT gene mutations in the US and in some European/Caucasian populations.

OMIM606999
Desc
Variant0006
Relatedalso
ClinVar
Risk Rs75391579(G;G)
Alt Rs75391579(G;G)
Reference Rs75391579(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.34648167A>G
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003798.6, RCV000185917.3,


[PMID 16838075] Classical galactosaemia revisited.