Variant (rsID / SNP)

rs1800014

rs1800014 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRNP. Location: chromosome 20, position 4,680,521. Clinical significance in the table: Benign.

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Reference-table entries

PRNPBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 20:4680521
Cytoband: 20p13
HGVS: NM_000311.5(PRNP):c.655G>A (p.Glu219Lys)
Allele change: Silent

Associated conditions / phenotypes

Protection against Creutzfeldt-Jakob disease|Inherited prion disease|Huntington disease-like 1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.