{{Rsnum
|rsid=80338770
|Chromosome=17
|Orientation=minus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=SLC46A1
|position=28405360
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SLC46A1
}}{{omim
|id=611672
|rsnum=80338770
|variant=0003
}}
{{omim
|id=611672
|rsnum=80338770
|variant=0006
}}{{ClinVar
|rsid=80338770
|Reversed=1
|FwdREF=C
|FwdALT=A,T
|REF=G
|ALT=A,T
|RSPOS=26732378
|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; 2
|CLNHGVS=NC_000017.10:g.26732378G>A; NC_000017.10:g.26732378G>T
|CLNSRC=GeneReviews; OMIM Allelic Variant; UniProtKB (variants)
|CLNORIGIN=1; 0
|CLNSRCID=NBK1673; 611672.0006; VAR_058210; 611672.0003; VAR_032825
|CLNCUI=C0342705,C0342705; C0342705
|CLNDBN=Congenital defect of folate absorption; not provided
|Disease=Congenital defect of folate absorption; not provided
|CLNACC=RCV000000903.2; RCV000059714.1; RCV000000900.1; RCV000059713.1
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1673:C0342705:229050:90045:62578003
|CLNSIG=5
}}{{PMID|3987728}} Congenital folate malabsorption.

{{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.{{PMID Auto
|PMID=18559978
|Title=A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function.
}}