Variant (rsID / SNP)

rs794729135

rs794729135 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP2. Location: chromosome 12, position 32,975,517. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

PKP2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:32975517
Cytoband: 12p11.21
HGVS: NM_001005242.3(PKP2):c.1723G>T (p.Glu575Ter)
Allele change: Nonsense_E575X

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.