Variant (rsID / SNP)
rs397516452
rs397516452 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNT2. Location: chromosome 1, position 201,334,751. Clinical significance in the table: Uncertain significance.
Reference-table entries
TNNT2Uncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:201334751
- Cytoband
- 1q32.1
- HGVS
- NM_001276345.2(TNNT2):c.281G>C (p.Arg94Thr)
- Allele change
- Missense_R84T
Associated conditions / phenotypes
Cardiovascular phenotype|Hypertrophic cardiomyopathy|Dilated cardiomyopathy 1D|Hypertrophic cardiomyopathy 2|Cardiomyopathy, familial restrictive, 3|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.