Variant (rsID / SNP)

rs1057520650

rs1057520650 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP2. Location: chromosome 12, position 33,021,884. 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: 12:33021884
Cytoband: 12p11.21
HGVS: NM_001005242.3(PKP2):c.1147C>T (p.Gln383Ter)
Allele change: Nonsense_Q383X

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.