rs74315408
This is a variant in the PRNP gene that changes a valine to an isoleucine.
▶ClinVar annotation
Fatal familial insomnia (FFI); Gerstmann-Straussler-Scheinker syndrome (GSD); Huntington disease-like 1 (HDL1); Inherited Creutzfeldt-Jakob disease; Inherited prion disease; Kuru, susceptibility to; Spongiform encephalopathy with neuropsychiatric features
View on ClinVar →About PRNP
The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
View all PRNP variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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