Variant (rsID / SNP)
rs56355369
rs56355369 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPM4. Location: chromosome 19, position 49,686,408. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
TRPM4Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:49686408
- Cytoband
- 19q13.33
- HGVS
- NM_017636.4(TRPM4):c.1682A>C (p.Asp561Ala)
- Allele change
- Missense_D25A
Associated conditions / phenotypes
Ventricular fibrillation|Cardiovascular phenotype|Arrhythmogenic right ventricular cardiomyopathy|Cardiomyopathy|Progressive familial heart block type IB
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
