Variant (rsID / SNP)

rs74315412

rs74315412 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRNP. Location: chromosome 20, position 4,680,489. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

PRNPLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 20:4680489
Cytoband: 20p13
HGVS: NM_000311.5(PRNP):c.623G>A (p.Arg208His)
Allele change: Silent

Associated conditions / phenotypes

Inherited Creutzfeldt-Jakob 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.