Variant (rsID / SNP)
rs3730238
rs3730238 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNT2. Location: chromosome 1, position 201,330,429. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
TNNT2Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:201330429
- Cytoband
- 1q32.1
- HGVS
- NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg)
- Allele change
- Missense_K253R
Associated conditions / phenotypes
Primary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Familial restrictive cardiomyopathy|Hypertrophic cardiomyopathy|Left ventricular noncompaction cardiomyopathy|Dilated Cardiomyopathy, Dominant|Cardiomyopathy|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.