Variant (rsID / SNP)
rs121964857
rs121964857 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNT2. Location: chromosome 1, position 201,328,373. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TNNT2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:201328373
- Cytoband
- 1q32.1
- HGVS
- NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)
- Allele change
- Missense_R278C
Associated conditions / phenotypes
Hypertrophic cardiomyopathy 2|Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 1|Costello syndrome|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3|Hypertrophic cardiomyopathy 2|Cardiovascular phenotype|Dilated cardiomyopathy 1D|Cardiomyopathy|Hypertrophic cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.