Variant (rsID / SNP)
rs730881119
rs730881119 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNT2. Location: chromosome 1, position 201,328,757. Clinical significance in the table: Pathogenic.
Reference-table entries
TNNT2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 1:201328757
- Cytoband
- 1q32.1
- HGVS
- NM_001276345.2(TNNT2):c.844dup (p.Gln282fs)
Associated conditions / phenotypes
Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.