Variant (rsID / SNP)

rs199979457

rs199979457 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDLIM3. Location: chromosome 4, position 186,429,726. 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: 4:186429726
Cytoband: 4q35.1
HGVS: NM_014476.6(PDLIM3):c.399-10A>G
Allele change: Silent

Associated conditions / phenotypes

Hypertrophic cardiomyopathy|Primary dilated 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.