{{Rsnum
|rsid=111033773
|Gene=GALT
|Chromosome=9
|position=34649032
|Orientation=plus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=GALT
}}{{omim
|id=606999
|rsnum=111033773
|variant=0013
}}{{ClinVar
|rsid=111033773
|Reversed=0
|FwdREF=G
|FwdALT=T
|REF=G
|ALT=T
|RSPOS=34649029
|CHROM=9
|GMAF=0.0005
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050268000000000016110100
|GENEINFO=GALT:2592
|GENE_NAME=GALT
|GENE_ID=2592
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000009.11:g.34649029G>T
|CLNSRC=Emory University; GTR; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=773; GTR000500501; 606999.0013
|CLNSIG=5
|CLNCUI=C0268151; C0268151
|CLNDBN=Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase; not provided
|Disease=Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase; not provided
|CLNACC=RCV000003805.1; RCV000078239.1
|Tags=PM;PMC;S3D;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1518:C0268151:230400:352:79239:124354006
|COMMON=0
}}{{PMID Auto
|PMID=103991
|Title=Altered hypothalamic-pituitary function in uraemic patients [proceedings].
}}

{{PMID Auto
|PMID=8198125
|Title=A common mutation associated with the Duarte galactosemia allele.
|OA=1
}}

{{PMID Auto
|PMID=10649501
|Title=Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R).
}}

{{PMID Auto
|PMID=10960497
|Title=Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes.
}}

{{PMID Auto
|PMID=11754113
|Title=Molecular analysis in newborns from Texas affected with galactosemia.
}}

{{PMID Auto
|PMID=19375122
|Title=An update on the molecular analysis of classical galactosaemia patients diagnosed in Spain and Portugal: 7 new mutations in 17 new families.
}}