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Variant (rsID / SNP)

rs142951316

PDLIM3

rs142951316 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDLIM3. Location: chromosome 4, position 186,446,250. 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
4:186446250
Cytoband
4q35.1
HGVS
NM_014476.6(PDLIM3):c.169A>G (p.Thr57Ala)
Allele change
Missense_T57A

Associated conditions / phenotypes

Hypertrophic cardiomyopathy|Primary dilated cardiomyopathy

Public references

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