Variant (rsID / SNP)
rs141805127
rs141805127 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNNT2. Location: chromosome 1, position 201,330,442. Clinical significance in the table: Uncertain significance.
Reference-table entries
TNNT2Uncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:201330442
- Cytoband
- 1q32.1
- HGVS
- NM_001276345.2(TNNT2):c.775G>A (p.Asp259Asn)
- Allele change
- Missense_D249N
Associated conditions / phenotypes
Cardiomyopathy, familial restrictive, 3|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiovascular phenotype|Hypertrophic cardiomyopathy 2|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.