rs75391579

plus

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

Reference

GRCh38 38.1/141

Chromosome

9

Position

34648170

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs75391579
dbSNP (classic)	rs75391579
ClinGen	rs75391579
ebi	rs75391579
HLI	rs75391579
Exac	rs75391579
Gnomad	rs75391579
Varsome	rs75391579
LitVar	rs75391579
Map	rs75391579
PheGenI	rs75391579
Biobank	rs75391579
1000 genomes	rs75391579
hgdp	rs75391579
ensembl	rs75391579
geneview	rs75391579
scholar	rs75391579
google	rs75391579
pharmgkb	rs75391579
gwascentral	rs75391579
openSNP	rs75391579
23andMe	rs75391579
SNPshot	rs75391579
SNPdbe	rs75391579
MSV3d	rs75391579
GWAS Ctlg	rs75391579

GMAF

0.001377

Max Magnitude

8

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.

23andMe name: i5002979

OMIM	606999
Desc
Variant	0006
Related	also

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.