Variant (rsID / SNP)
rs143121072
rs143121072 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDLIM3. Location: chromosome 4, position 186,427,772. Clinical significance in the table: Likely benign.
Reference-table entries
PDLIM3Likely benign
- Clinical significance (as recorded)
- Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:186427772
- Cytoband
- 4q35.1
- HGVS
- NM_014476.6(PDLIM3):c.697G>C (p.Val233Leu)
- Allele change
- Missense_V185L
Associated conditions / phenotypes
Primary dilated cardiomyopathy|Hypertrophic cardiomyopathy|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.