Variant (rsID / SNP)

rs200273032

rs200273032 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDLIM3. Location: chromosome 4, position 186,423,617. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PDLIM3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 4:186423617
Cytoband: 4q35.1
HGVS: NM_014476.6(PDLIM3):c.926G>A (p.Arg309Gln)
Allele change: Missense_R261Q

Associated conditions / phenotypes

Primary dilated cardiomyopathy|Hypertrophic 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.