Variant (rsID / SNP)
rs794729109
rs794729109 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP2. Location: chromosome 12, position 32,976,981. Clinical significance in the table: Pathogenic.
Reference-table entries
PKP2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:32976981
- Cytoband
- 12p11.21
- HGVS
- NM_001005242.3(PKP2):c.1672A>T (p.Lys558Ter)
- Allele change
- Nonsense_K558X
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.