Variant (rsID / SNP)
rs3729547
rs3729547 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNT2. Location: chromosome 1, position 201,334,382. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:201334382
- Cytoband
- 1q32.1
- HGVS
- NM_001276345.2(TNNT2):c.348C>T (p.Ile116=)
- Allele change
- Synonymous_I106I
Associated conditions / phenotypes
Cardiovascular phenotype|Left ventricular noncompaction cardiomyopathy|Dilated Cardiomyopathy, Dominant|Familial restrictive cardiomyopathy|Hypertrophic cardiomyopathy|Cardiomyopathy|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3|Hypertrophic cardiomyopathy 2|Cardiomyopathy, familial restrictive, 3|Dilated cardiomyopathy 1D
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.