Variant (rsID / SNP)
rs104894729
rs104894729 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNI3. Location: chromosome 19, position 55,663,260. Clinical significance in the table: Pathogenic.
Reference-table entries
TNNI3Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:55663260
- Cytoband
- 19q13.42
- HGVS
- NM_000363.5(TNNI3):c.575G>A (p.Arg192His)
- Allele change
- Missense_A192T
Associated conditions / phenotypes
Cardiomyopathy, familial restrictive, 1|Restrictive cardiomyopathy|Hypertrophic cardiomyopathy|Primary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy|Restrictive cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.