rs111033715

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

34648119

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033715
dbSNP (classic)	rs111033715
ClinGen	rs111033715
ebi	rs111033715
HLI	rs111033715
Exac	rs111033715
Gnomad	rs111033715
Varsome	rs111033715
LitVar	rs111033715
Map	rs111033715
PheGenI	rs111033715
Biobank	rs111033715
1000 genomes	rs111033715
hgdp	rs111033715
ensembl	rs111033715
geneview	rs111033715
scholar	rs111033715
google	rs111033715
pharmgkb	rs111033715
gwascentral	rs111033715
openSNP	rs111033715
23andMe	rs111033715
SNPshot	rs111033715
SNPdbe	rs111033715
MSV3d	rs111033715
GWAS Ctlg	rs111033715

Max Magnitude

8

c.512T>C (p.Phe171Ser)

23andMe name: i5002977

OMIM	606999
Desc
Variant	0008
Related	also

ClinVar
Risk	Rs111033715(C;C)
Alt	Rs111033715(C;C)
Reference	Rs111033715(T;T)
Significance	Other
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.34648116T>C
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003800.7,