{{Rsnum
|rsid=281875208
|Chromosome=17
|Orientation=minus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=SLC46A1
|position=28404693
|Gene_s=SLC46A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=17
|CLNACC=RCV000023911.3; RCV000059708.1
|CLNALLE=1
|CLNDBN=Congenital defect of folate absorption; not provided
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1673:C0342705:229050:90045:62578003
|CLNHGVS=NC_000017.10:g.26731711G>T
|CLNSIG=5
|CLNSRC=GeneReviews; OMIM Allelic Variant; UniProtKB (variants)
|CLNSRCID=NBK1673; 611672.0008; VAR_067961
|Disease=Congenital defect of folate absorption; not provided
|FwdALT=A
|FwdREF=C
|REF=G
|RSPOS=26731711
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD
|VC=SNV
|VP=0x050168000000000002100100
|WGT=0
|dbSNPBuildID=137
|rsid=281875208
|GENEINFO=SLC46A1:113235
|GENE_ID=113235
|GENE_NAME=SLC46A1
}}{{PMID Auto
|PMID=21333572
|Title=Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption.
|OA=1
}}