{{Rsnum
|rsid=28940885
|Gene=GALE
|Chromosome=1
|position=23796183
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.001377
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=GALE
}}{{omim
|desc=GALACTOSE EPIMERASE DEFICIENCY
|id=606953
|rsnum=28940885
|variant=0007
}}
{{ neighbor
| rsid = 3180383
| distance = 19
}}

{{ClinVar
|rsid=28940885
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=23796183
|CHROM=1
|GMAF=0.0014
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050360000a05040016110100
|GENEINFO=GALE:2582
|GENE_NAME=GALE
|GENE_ID=2582
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.23796183C>T
|CLNSRC=ClinVar; Emory University; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_001008216.1:c.956G>A; 2453; NBK51671; 606953.0007
|CLNSIG=5
|CLNCUI=C0751161; C0751161
|CLNDBN=UDPglucose-4-epimerase deficiency; not provided
|Disease=UDPglucose-4-epimerase deficiency; not provided
|CLNACC=RCV000003866.1; RCV000078697.1
|Tags=RV;PM;S3D;SLO;NSM;REF;ASP;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9986; 0.001377
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK51671:C0751161:230350:ORPHA352:ORPHA79238:8849004
|COMMON=1
}}

{{GET Evidence
|gene=GALE
|aa_change=Gly319Glu
|aa_change_short=G319E
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs28940885
|overall_frequency_n=17
|overall_frequency_d=10758
|overall_frequency=0.00158022
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.013
|genetests_testable=Y
|nblosum100=6
|autoscore=3
|webscore=N
|n_web_uneval=10
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}