{{Rsnum
|rsid=121908047
|Chromosome=1
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=GALE
|position=23798188
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=GALE
}}{{omim
|id=606953
|rsnum=121908047
|variant=0008
}}{{ClinVar
|rsid=121908047
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=23798188
|CHROM=1
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050360000a05000002110100
|GENEINFO=GALE:2582
|GENE_NAME=GALE
|GENE_ID=2582
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.23798188C>T
|CLNSRC=ClinVar; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_001008216.1:c.280G>A; NBK51671; 606953.0008
|CLNSIG=5
|CLNCUI=C0751161
|CLNDBN=Galactose epimerase deficiency, severe; UDPglucose-4-epimerase deficiency
|Disease=Galactose epimerase deficiency; UDPglucose-4-epimerase deficiency
|CLNACC=RCV000003867.1; RCV000020292.1
|Tags=RV;PM;S3D;SLO;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK51671:C0751161:230350:ORPHA352:ORPHA79238:8849004
}}