Variant (rsID / SNP)
rs267607124
rs267607124 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNC1. Location: chromosome 3, position 52,485,426. Clinical significance in the table: Uncertain significance.
Reference-table entries
TNNC1Uncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:52485426
- Cytoband
- 3p21.1
- HGVS
- NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu)
- Allele change
- Missense_D145E
Associated conditions / phenotypes
Hypertrophic cardiomyopathy 13|Hypertrophic cardiomyopathy 13|Dilated cardiomyopathy 1Z|Dilated cardiomyopathy 1S|Cardiovascular phenotype
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
