Variant (rsID / SNP)
rs45466197
rs45466197 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNT2. Location: chromosome 1, position 201,330,455. 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
- 1:201330455
- Cytoband
- 1q32.1
- HGVS
- NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp)
- Allele change
- Missense_E244D
Associated conditions / phenotypes
Primary familial hypertrophic cardiomyopathy|Dilated cardiomyopathy 1D|Hypertrophic cardiomyopathy 2|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3|Cardiomyopathy|TNNT2-Related Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.