Variant (rsID / SNP)
rs730881092
rs730881092 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNT2. Location: chromosome 1, position 201,330,502. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TNNT2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:201330502
- Cytoband
- 1q32.1
- HGVS
- NM_001276345.2(TNNT2):c.720-5T>G
- Allele change
- Silent
Associated conditions / phenotypes
Familial restrictive cardiomyopathy|Left ventricular noncompaction cardiomyopathy|Dilated Cardiomyopathy, Dominant|Hypertrophic cardiomyopathy|Cardiomyopathy|Cardiomyopathy, familial restrictive, 3|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.