Variant (rsID / SNP)
rs397516447
rs397516447 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNT2. Location: chromosome 1, position 201,337,317. 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
- 1:201337317
- Cytoband
- 1q32.1
- HGVS
- NM_001276345.2(TNNT2):c.136G>C (p.Ala46Pro)
- Allele change
- Missense_A36P
Associated conditions / phenotypes
Primary familial hypertrophic cardiomyopathy|Hypertrophic 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.