Variant (rsID / SNP)
rs727504245
rs727504245 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNT2. Location: chromosome 1, position 201,334,389. 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
- 1:201334389
- Cytoband
- 1q32.1
- HGVS
- NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val)
- Allele change
- Missense_A104V
Associated conditions / phenotypes
Cardiomyopathy, familial restrictive, 3|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Hypertrophic cardiomyopathy|Primary familial hypertrophic cardiomyopathy|Cardiomyopathy|Dilated cardiomyopathy 1D|Hypertrophic cardiomyopathy 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.