Variant (rsID / SNP)
rs1799990
rs1799990 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRNP. Location: chromosome 20, position 4,680,251. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
PRNPBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:4680251
- Cytoband
- 20p13
- HGVS
- NM_000311.5(PRNP):c.385A>G (p.Met129Val)
- Allele change
- Silent
Associated conditions / phenotypes
Alzheimer disease, early-onset, susceptibility to|Aphasia, primary progressive, susceptibility to|Prion disease, susceptibility to|Inherited prion disease|Huntington disease-like 1|Inherited Creutzfeldt-Jakob disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.