rs111033728

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

34648353

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033728
dbSNP (classic)	rs111033728
ClinGen	rs111033728
ebi	rs111033728
HLI	rs111033728
Exac	rs111033728
Gnomad	rs111033728
Varsome	rs111033728
LitVar	rs111033728
Map	rs111033728
PheGenI	rs111033728
Biobank	rs111033728
1000 genomes	rs111033728
hgdp	rs111033728
ensembl	rs111033728
geneview	rs111033728
scholar	rs111033728
google	rs111033728
pharmgkb	rs111033728
gwascentral	rs111033728
openSNP	rs111033728
23andMe	rs111033728
SNPshot	rs111033728
SNPdbe	rs111033728
MSV3d	rs111033728
GWAS Ctlg	rs111033728

Max Magnitude

8

aka c.584T>C (p.Leu195Pro or L195P)

ClinVar
Risk	Rs111033728(C;C)
Alt	Rs111033728(C;C)
Reference	Rs111033728(T;T)
Significance	Pathogenic
Disease	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not provided
Variation	info
Gene	GALT
CLNDBN	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not provided
Reversed	0
HGVS	NC_000009.11:g.34648350T>C
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000022158.6, RCV000224416.1,

[PMID 819812] [Editorial: The pros and cons of tonsillectomy].

[PMID 1373122] Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia.

[PMID 12552079 ] Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia.

[PMID 17079880] Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase (GALT) gene.

[PMID 17486650] Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene.

[PMID 17876724] Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene.