{{Rsnum
|rsid=111033728
|Chromosome=9
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=GALT
|position=34648353
|Gene_s=GALT
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=111033728
|Reversed=0
|FwdREF=T
|FwdALT=C
|REF=T
|ALT=C
|RSPOS=34648350
|CHROM=9
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050268000000000002100100
|GENEINFO=GALT:2592
|GENE_NAME=GALT
|GENE_ID=2592
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000009.11:g.34648350T>C
|CLNSRC=Emory University; GTR
|CLNORIGIN=1
|CLNSIG=5
|CLNDBN=Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase; not provided
|Disease=Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase; not provided
|Tags=PM;PMC;S3D;OTHERKG;LSD
|CLNACC=RCV000022158.1; RCV000078230.1
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1518:C0268151:230400:352:79239:124354006
|CLNSRCID=769; GTR000500501
}}{{PMID Auto
|PMID=819812
|Title=[Editorial: The pros and cons of tonsillectomy].
}}

{{PMID Auto
|PMID=1373122
|Title=Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia.
}}

{{PMID Auto
|PMID=12552079
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=17079880
|Title=Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase (GALT) gene.
}}

{{PMID Auto
|PMID=17486650
|Title=Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene.
}}

{{PMID Auto
|PMID=17876724
|Title=Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene.
}}