Variant (rsID / SNP)
rs267607125
rs267607125 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNC1. Location: chromosome 3, position 52,488,009. Clinical significance in the table: Likely pathogenic.
Reference-table entries
TNNC1Likely pathogenic
- Clinical significance (as recorded)
- Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:52488009
- Cytoband
- 3p21.1
- HGVS
- NM_003280.3(TNNC1):c.23C>T (p.Ala8Val)
- Allele change
- Missense_A8V
Associated conditions / phenotypes
Hypertrophic cardiomyopathy 13|Cardiovascular phenotype|Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 13|Dilated cardiomyopathy 1Z|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.