Variant (rsID / SNP)
rs1057521530
rs1057521530 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNI3. Location: chromosome 19, position 55,665,454. 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
- 19:55665454
- Cytoband
- 19q13.42
- HGVS
- NM_000363.5(TNNI3):c.493G>T (p.Glu165Ter)
- Allele change
- Missense_R164S
Associated conditions / phenotypes
Hypertrophic cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.