Variant (rsID / SNP)
rs3729712
rs3729712 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNI3. Location: chromosome 19, position 55,667,616. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TNNI3Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:55667616
- Cytoband
- 19q13.42
- HGVS
- NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys)
- Allele change
- Synonymous_P78P
Associated conditions / phenotypes
Cardiovascular phenotype|Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 1|Dilated cardiomyopathy 2A|Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome|Cardiomyopathy|Cardiomyopathy, familial restrictive, 1|Hypertrophic cardiomyopathy 7
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.