Variant (rsID / SNP)
rs45578238
rs45578238 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNT2. Location: chromosome 1, position 201,331,099. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
TNNT2Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Microsatellite
- Chromosome / position
- 1:201331099
- Cytoband
- 1q32.1
- HGVS
- NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del)
Associated conditions / phenotypes
Dilated cardiomyopathy 1D|Primary dilated cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3|Cardiomyopathy|Hypertrophic cardiomyopathy 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.