Variant (rsID / SNP)
rs374443596
rs374443596 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNT2. Location: chromosome 1, position 201,341,266. 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
- 1:201341266
- Cytoband
- 1q32.1
- HGVS
- NM_001276345.2(TNNT2):c.52+7G>A
- Allele change
- Silent
Associated conditions / phenotypes
Dilated Cardiomyopathy, Dominant|Cardiomyopathy, familial restrictive, 3|Left ventricular noncompaction cardiomyopathy|Hypertrophic cardiomyopathy 2|Cardiomyopathy|Dilated cardiomyopathy 1D|Hypertrophic cardiomyopathy 2|Cardiomyopathy, familial restrictive, 3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.