{{Rsnum
|rsid=80338772
|Chromosome=17
|Orientation=minus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=SLC46A1
|position=28404743
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SLC46A1
}}{{omim
|id=611672
|rsnum=80338772
|variant=0004
}}{{ClinVar
|rsid=80338772
|Reversed=1
|FwdREF=C
|FwdALT=G
|REF=G
|ALT=C
|RSPOS=26731761
|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.26731761G>C
|CLNSRC=GeneReviews; OMIM Allelic Variant; UniProtKB (variants)
|CLNORIGIN=0
|CLNSRCID=NBK1673; 611672.0004; VAR_032827
|CLNSIG=5
|CLNCUI=C0342705; C0342705
|CLNDBN=Congenital defect of folate absorption; not provided
|Disease=Congenital defect of folate absorption; not provided
|CLNACC=RCV000000901.1; RCV000059717.1
|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.