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Variant (rsID / SNP)

rs111033560

PLN

rs111033560 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLN. Location: chromosome 6, position 118,880,200. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PLNPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
6:118880200
Cytoband
6q22.31
HGVS
NM_002667.5(PLN):c.116T>G (p.Leu39Ter)
Allele change
Silent

Associated conditions / phenotypes

Dilated cardiomyopathy 1P|Hypertrophic cardiomyopathy 18|Sudden cardiac death|Cardiac arrest|Primary dilated cardiomyopathy|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.