{{Rsnum
|rsid=80338773
|Chromosome=17
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=SLC46A1
|position=28402277
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SLC46A1
}}{{omim
|id=611672
|rsnum=80338773
|variant=0005
}}{{ClinVar
|rsid=80338773
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=26729295
|CHROM=17
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=SLC46A1:113235
|GENE_NAME=SLC46A1
|GENE_ID=113235
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.26729295G>A
|CLNSRC=GeneReviews; OMIM Allelic Variant; UniProtKB (variants)
|CLNORIGIN=1
|CLNSRCID=NBK1673; 611672.0005; VAR_032828
|CLNSIG=5
|CLNCUI=C0342705; C0342705
|CLNDBN=Congenital defect of folate absorption; not provided
|Disease=Congenital defect of folate absorption; not provided
|CLNACC=RCV000000902.1; RCV000059710.1
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1673:C0342705:229050:90045:62578003
}}{{PMID|17446347|OA=1
}} The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption.