Variant (rsID / SNP)
rs45501500
rs45501500 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNT2. Location: chromosome 1, position 201,332,518. 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
- 1:201332518
- Cytoband
- 1q32.1
- HGVS
- NM_001276345.2(TNNT2):c.506G>A (p.Arg169Gln)
- Allele change
- Missense_R159Q
Associated conditions / phenotypes
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.
