Variant (rsID / SNP)

rs62347360

rs62347360 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDLIM3. Location: chromosome 4, position 186,427,735. Clinical significance in the table: Benign.

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Reference-table entries

PDLIM3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:186427735
Cytoband: 4q35.1
HGVS: NM_014476.6(PDLIM3):c.734C>T (p.Thr245Ile)
Allele change: Missense_T197I

Associated conditions / phenotypes

Hypertrophic cardiomyopathy|Primary dilated cardiomyopathy|Cardiovascular phenotype

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.