Variant (rsID / SNP)
rs74315379
rs74315379 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNT2. Location: chromosome 1, position 201,333,464. Clinical significance in the table: Pathogenic.
Reference-table entries
TNNT2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:201333464
- Cytoband
- 1q32.1
- HGVS
- NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp)
- Allele change
- Missense_R141W
Associated conditions / phenotypes
Dilated cardiomyopathy 1D|Primary dilated cardiomyopathy|Primary dilated cardiomyopathy|Hypertrophic cardiomyopathy|Cardiomyopathy, familial restrictive, 3|Dilated cardiomyopathy 1D|Hypertrophic cardiomyopathy 2|Familial isolated dilated cardiomyopathy|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.