{{Rsnum
|rsid=2070074
|Gene=GALT
|Chromosome=9
|position=34649445
|Orientation=plus
|GMAF=0.05464
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=GALT
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 73.8 | 24.6 | 1.5
| HCB | 93.3 | 6.7 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 100.0 | 0.0 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 93.3 | 6.7 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}

{{omim
|id=606999
|desc=GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT
|rsnum=2070074
}}

{{omim
|id=606999
|rsnum=2070074
|variant=0005
}}

{{ClinVar
|rsid=2070074
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=34649442
|CHROM=9
|GMAF=0.0545
|dbSNPBuildID=96
|SSR=0
|SAO=1
|VP=0x05036800000015051f110101
|GENEINFO=GALT:2592
|GENE_NAME=GALT
|GENE_ID=2592
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000009.11:g.34649442A>G
|CLNSRC=Emory University; GTR; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSIG=255
|CLNCUI=C0268151
|CLNDBN=GALT POLYMORPHISM (DUARTE, D2); GALT POLYMORPHISM (LOS ANGELES, D1); Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase; not provided
|Disease=GALT POLYMORPHISM (DUARTE; GALT POLYMORPHISM (LOS ANGELES; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase; not provided
|CLNACC=RCV000003797.1; RCV000003804.1; RCV000022233.2; RCV000078243.1
|Tags=PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9454; 0.05464
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1518:C0268151:230400:352:79239:124354006
|CLNSRCID=735; GTR000500501; GTR000500512; 606999.0005; 606999.0012
|COMMON=1
}}

{{PMID Auto
|PMID=18805939
|Title=Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.
|OA=1
}}

{{PMID Auto
|PMID=2011574
|Title=Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.
|OA=1
}}

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

{{PMID Auto
|PMID=10424825
|Title=Presence of a deletion in the 5' upstream region of the GALT gene in Duarte (D2) alleles.
|OA=1
}}

{{PMID Auto
|PMID=19224951
|Title=Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.
|OA=1
}}

{{GET Evidence
|gene=GALT
|aa_change=Asn314Asp
|aa_change_short=N314D
|impact=benign
|qualified_impact=Low clinical importance, Uncertain benign
|inheritance=undefined
|quality_scores=Array
|dbsnp_id=rs2070074
|overall_frequency_n=771
|overall_frequency_d=10758
|overall_frequency=0.0716676
|n_genomes=4
|n_genomes_annotated=0
|n_haplomes=5
|n_articles=3
|n_articles_annotated=3
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=3
|qualitycomment_in_vitro=Y
|qualityscore_case_control=1
|qualitycomment_case_control=Y
|gene_in_genetests=Y
|in_omim=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-1
|autoscore=4
|webscore=Y
|n_web_uneval=5
|variant_evidence=0
|clinical_importance=0
|summary_short=This variant has an allele frequency of ~8% and is ancestral to "Duarte" / "Duarte 2" and "Duarte 1"/"Los Angeles" galactosemia variants. This variant is evolutionarily ancestral, and in vitro studies fail to support an impact of this variant on enzyme activity. Carney et al. instead implicate a 4 base deletion on the 5' of the GALT gene as being causal and linked to this variant. Galactosemia is typically screened and detected in infants and causes early, severe but nonspecific symptoms (digestive problems, lethargy, failure to thrive).
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}