rs1041951
This is a variant in the FECH gene that changes a arginine to an glutamine.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Genetic association analyses of non-synonymous single nucleotide polymorphisms in diabetic nephropathyAssociationN=1,711Savage DA et al.(2008)· Diabetologia
This case-control study investigated 1,111 non-synonymous SNPs in 1,711 type 1 diabetic individuals (894 cases with diabetic nephropathy, 817 controls) to assess genetic susceptibility to diabetic nephropathy. After correction for multiple testing, no SNPs demonstrated significant associations with diabetic nephropathy, including in subgroup analyses by ESRD status or diabetes duration.
About FECH
The protein encoded by this gene is localized to the mitochondrion, where it catalyzes the insertion of the ferrous form of iron into protoporphyrin IX in the heme synthesis pathway. Mutations in this gene are associated with erythropoietic protoporphyria. Two transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome 3.[provided by RefSeq, May 2010]
View all FECH variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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