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Variant (rsID / SNP)

rs200354645

PDLIM3

rs200354645 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDLIM3. Location: chromosome 4, position 186,444,600. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PDLIM3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:186444600
Cytoband
4q35.1
HGVS
NM_014476.6(PDLIM3):c.246G>A (p.Arg82=)
Allele change
Synonymous_R82R

Associated conditions / phenotypes

Primary dilated cardiomyopathy|Hypertrophic cardiomyopathy

Public references

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