{{Rsnum
|rsid=2272783
|Gene=FECH
|Chromosome=18
|position=57571588
|Orientation=minus
|GMAF=0.1552
|Gene_s=FECH
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}[[rs2272783]], also known as IVS3-48T-C, is a mutation in the ferrochelatase [[FECH]] gene leading to lowered expression of that enzyme.

When coupled in trans with a nonfunctional FECH allele, this is likely to lead to [[Erythropoietic protoporphyria]].

See also: [http://omim.org/entry/612386#0015 OMIM 612386.0015]

{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 0.9 | 10.7 | 88.4
| HCB | 9.5 | 40.9 | 49.6
| JPT | 15.9 | 51.3 | 32.7
| YRI | 0.0 | 2.0 | 98.0
| ASW | 0.0 | 3.5 | 96.5
| CHB | 9.5 | 40.9 | 49.6
| CHD | 6.4 | 44.0 | 49.5
| GIH | 1.0 | 15.8 | 83.2
| LWK | 0.0 | 5.5 | 94.5
| MEX | 10.3 | 44.8 | 44.8
| MKK | 0.0 | 3.2 | 96.8
| TSI | 0.0 | 4.9 | 95.1
| HapMapRevision=28
}}{{ClinVar
|ALT=G
|CAF=0.8448; 0.1552
|CHROM=18
|CLNACC=RCV000000592.1
|CLNALLE=1
|CLNDBN=Erythropoietic protoporphyria
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK100826:C0162568:177000:79278:51022005
|CLNHGVS=NC_000018.9:g.55238820A>G
|CLNSIG=5
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK100826; 612386.0015
|COMMON=1
|Disease=Erythropoietic protoporphyria
|FwdALT=C
|FwdREF=T
|GENEINFO=FECH:2235
|GENE_ID=2235
|GENE_NAME=FECH
|REF=A
|RSPOS=55238820
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|VC=SNV
|VP=0x050168000000150517110100
|WGT=0
|dbSNPBuildID=100
|rsid=2272783
}}

{{PMID Auto
|PMID=16385445
|Title=Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.
|OA=1
}}

{{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}}