rs111033709

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

9

Position

34647959

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033709
dbSNP (classic)	rs111033709
ClinGen	rs111033709
ebi	rs111033709
HLI	rs111033709
Exac	rs111033709
Gnomad	rs111033709
Varsome	rs111033709
LitVar	rs111033709
Map	rs111033709
PheGenI	rs111033709
Biobank	rs111033709
1000 genomes	rs111033709
hgdp	rs111033709
ensembl	rs111033709
geneview	rs111033709
scholar	rs111033709
google	rs111033709
pharmgkb	rs111033709
gwascentral	rs111033709
openSNP	rs111033709
23andMe	rs111033709
SNPshot	rs111033709
SNPdbe	rs111033709
MSV3d	rs111033709
GWAS Ctlg	rs111033709

Max Magnitude

8

c.505C>A (p.Gln169Lys)

23andMe name: i5002726

ClinVar
Risk	Rs111033709(A;A)
Alt	Rs111033709(A;A)
Reference	Rs111033709(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.34647956C>A
CLNSRC	ARUP GALT
CLNACC	RCV000022126.1,