rs111033647

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

9

Position

34647136

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033647
dbSNP (classic)	rs111033647
ClinGen	rs111033647
ebi	rs111033647
HLI	rs111033647
Exac	rs111033647
Gnomad	rs111033647
Varsome	rs111033647
LitVar	rs111033647
Map	rs111033647
PheGenI	rs111033647
Biobank	rs111033647
1000 genomes	rs111033647
hgdp	rs111033647
ensembl	rs111033647
geneview	rs111033647
scholar	rs111033647
google	rs111033647
pharmgkb	rs111033647
gwascentral	rs111033647
openSNP	rs111033647
23andMe	rs111033647
SNPshot	rs111033647
SNPdbe	rs111033647
MSV3d	rs111033647
GWAS Ctlg	rs111033647

Max Magnitude

8

c.130G>T (p.Val44Leu) and c.130G>A (p.Val44Met); both are considered pathogenic in ClinVar

23andMe name for c.130G>A: i5002980

OMIM	606999
Desc
Variant	0003
Related	also

ClinVar
Risk	Rs111033647(A;A) Rs111033647(T;T)
Alt	Rs111033647(A;A) Rs111033647(T;T)
Reference	Rs111033647(G;G)
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.34647133G>A; NC_000009.11:g.34647133G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003795.1, RCV000022056.1,