Variant (rsID / SNP)
rs202000367
rs202000367 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNC1. Location: chromosome 3, position 52,486,216. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TNNC1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:52486216
- Cytoband
- 3p21.1
- HGVS
- NM_003280.3(TNNC1):c.108C>A (p.Ile36=)
- Allele change
- Synonymous_I36I
Associated conditions / phenotypes
Hypertrophic cardiomyopathy 13|Dilated cardiomyopathy 1Z|Dilated cardiomyopathy 1Z|Hypertrophic cardiomyopathy 13|Cardiovascular phenotype|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.