Variant (rsID / SNP)
rs77615401
rs77615401 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNI3. Location: chromosome 19, position 55,667,607. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:55667607
- Cytoband
- 19q13.42
- HGVS
- NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser)
- Allele change
- Synonymous_S81S
Associated conditions / phenotypes
Hypertrophic cardiomyopathy 7|Hypertrophic cardiomyopathy|Cardiomyopathy|Cardiovascular phenotype|Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome|Familial restrictive cardiomyopathy|Dilated Cardiomyopathy, Recessive|Cardiomyopathy|Amyloidogenic transthyretin amyloidosis|Dilated cardiomyopathy 2A|Cardiomyopathy, familial restrictive, 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.