Variant (rsID / SNP)
rs74315408
rs74315408 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRNP. Location: chromosome 20, position 4,680,404. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
PRNPPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:4680404
- Cytoband
- 20p13
- HGVS
- NM_000311.5(PRNP):c.538G>A (p.Val180Ile)
- Allele change
- Silent
Associated conditions / phenotypes
Inherited Creutzfeldt-Jakob disease|Inherited prion disease|Huntington disease-like 1|Gerstmann-Straussler-Scheinker syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.