rs111033686

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

9

Position

34647867

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033686
dbSNP (classic)	rs111033686
ClinGen	rs111033686
ebi	rs111033686
HLI	rs111033686
Exac	rs111033686
Gnomad	rs111033686
Varsome	rs111033686
LitVar	rs111033686
Map	rs111033686
PheGenI	rs111033686
Biobank	rs111033686
1000 genomes	rs111033686
hgdp	rs111033686
ensembl	rs111033686
geneview	rs111033686
scholar	rs111033686
google	rs111033686
pharmgkb	rs111033686
gwascentral	rs111033686
openSNP	rs111033686
23andMe	rs111033686
SNPshot	rs111033686
SNPdbe	rs111033686
MSV3d	rs111033686
GWAS Ctlg	rs111033686

Max Magnitude

8

aka c.413C>T (p.Thr138Met or T138M)

ClinVar
Risk	Rs111033686(T;T)
Alt	Rs111033686(T;T)
Reference	Rs111033686(C;C)
Significance	Pathogenic
Disease	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Variation	info
Gene	GALT
CLNDBN	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Reversed	0
HGVS	NC_000009.11:g.34647864C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000022107.1,