Variant (rsID / SNP)
rs16990018
rs16990018 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRNP. Location: chromosome 20, position 4,680,378. Clinical significance in the table: Benign.
Reference-table entries
PRNPBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:4680378
- Cytoband
- 20p13
- HGVS
- NM_000311.5(PRNP):c.512A>G (p.Asn171Ser)
- Allele change
- Silent
Associated conditions / phenotypes
Spongiform encephalopathy with neuropsychiatric features|Inherited prion disease|Huntington disease-like 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.