Variant (rsID / SNP)

rs794729108

rs794729108 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP2. Location: chromosome 12, position 32,977,018. Clinical significance in the table: Pathogenic.

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Reference-table entries

PKP2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:32977018
Cytoband: 12p11.21
HGVS: NM_001005242.3(PKP2):c.1635T>G (p.Tyr545Ter)
Allele change: Nonsense_Y545X

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.