rs111033690

plus

Geno	Mag	Summary
(C;C)	0	common in complete genomics
(C;T)	3	Carrier of a GALT gene mutation
(T;T)	8	Galactosemia (predicted); see discussion

Reference

GRCh38 38.1/141

Chromosome

9

Position

34647858

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033690
dbSNP (classic)	rs111033690
ClinGen	rs111033690
ebi	rs111033690
HLI	rs111033690
Exac	rs111033690
Gnomad	rs111033690
Varsome	rs111033690
LitVar	rs111033690
Map	rs111033690
PheGenI	rs111033690
Biobank	rs111033690
1000 genomes	rs111033690
hgdp	rs111033690
ensembl	rs111033690
geneview	rs111033690
scholar	rs111033690
google	rs111033690
pharmgkb	rs111033690
gwascentral	rs111033690
openSNP	rs111033690
23andMe	rs111033690
SNPshot	rs111033690
SNPdbe	rs111033690
MSV3d	rs111033690
GWAS Ctlg	rs111033690

GMAF

0.001837

Max Magnitude

8

rs111033690, also known as c.404C>T, p.Ser135Leu and S135L, represents a variant in the GALT gene on chromosome 9.

The rs111033690(T) allele is considered a pathogenic mutation associated with galactosemia, a recessively inherited disorder typically first diagnosed in newborns. This mutation has been reported as occurring only in individuals of African descent.

23andMe name for c.404C>T: i5002975

OMIM	606999
Desc
Variant	0010
Related	also

ClinVar
Risk	rs111033690(G;G) Rs111033690(T;T)
Alt	rs111033690(G;G) Rs111033690(T;T)
Reference	Rs111033690(C;C)
Significance	Other
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.34647855C>G; NC_000009.11:g.34647855C>T
CLNSRC	UniProtKB (protein) HGMD OMIM Allelic Variant
CLNACC	RCV000022105.3, RCV000003802.6, RCV000185915.2,