rs111033726

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

9

Position

34648349

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033726
dbSNP (classic)	rs111033726
ClinGen	rs111033726
ebi	rs111033726
HLI	rs111033726
Exac	rs111033726
Gnomad	rs111033726
Varsome	rs111033726
LitVar	rs111033726
Map	rs111033726
PheGenI	rs111033726
Biobank	rs111033726
1000 genomes	rs111033726
hgdp	rs111033726
ensembl	rs111033726
geneview	rs111033726
scholar	rs111033726
google	rs111033726
pharmgkb	rs111033726
gwascentral	rs111033726
openSNP	rs111033726
23andMe	rs111033726
SNPshot	rs111033726
SNPdbe	rs111033726
MSV3d	rs111033726
GWAS Ctlg	rs111033726

Max Magnitude

8

c.580T>C (p.Phe194Leu)

23andMe name: i5002969

ClinVar
Risk	Rs111033726(C;C)
Alt	Rs111033726(C;C)
Reference	Rs111033726(T;T)
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.34648346T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003808.1,