Variant (rsID / SNP)

rs111033559

rs111033559 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLN. Location: chromosome 6, position 118,880,109. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PLNPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:118880109
Cytoband: 6q22.31
HGVS: NM_002667.5(PLN):c.25C>T (p.Arg9Cys)
Allele change: Silent

Associated conditions / phenotypes

Dilated cardiomyopathy 1P|Primary dilated cardiomyopathy|Cardiomyopathy

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.