Annotation Detail
Information
- Associated Genes
- TNNT2
- Associated Variants
-
TNNT2 p.Arg215Gln (p.R215Q)
(
ENST00000509001.5,
ENST00000422165.6,
ENST00000367320.6,
ENST00000367322.6,
ENST00000658476.1,
ENST00000412633.3,
ENST00000660295.1,
ENST00000455702.7,
ENST00000714317.1,
ENST00000656932.1,
ENST00000714316.2,
ENST00000367318.10,
ENST00000438742.6,
ENST00000714314.1,
ENST00000714313.1,
ENST00000714312.1 )
TNNT2 p.Arg215Gln (p.R215Q) ( ENST00000367318.10, ENST00000367320.6, ENST00000367322.6, ENST00000412633.3, ENST00000422165.6, ENST00000438742.6, ENST00000455702.7, ENST00000509001.5, ENST00000656932.1, ENST00000658476.1, ENST00000660295.1, ENST00000714312.1, ENST00000714313.1, ENST00000714314.1, ENST00000714316.2, ENST00000714317.1 ) - Associated Disease
- Cardiomyopathy, familial restrictive, 3 dilated cardiomyopathy 1D hypertrophic cardiomyopathy 2
- Source Database
- ClinVar
- Description
- NM_001276345.2(TNNT2):c.644G>A (p.Arg215Gln) AND multiple conditions
- ClinVar Allele ID
- 172498
- ClinVar RefSeq Alternation Syntax
- NM_001001432.3:c.596G>A
- ClinVar RefSeq Alternation Syntax
- NM_001276347.2:c.614G>A
- ClinVar RefSeq Alternation Syntax
- NM_000364.4:c.635G>A
- ClinVar RefSeq Alternation Syntax
- NM_001001431.3:c.605G>A
- ClinVar RefSeq Alternation Syntax
- NM_001001430.3:c.614G>A
- ClinVar RefSeq Alternation Syntax
- NM_001276345.2:c.644G>A
- ClinVar RefSeq Alternation Syntax
- NM_001276346.2:c.515G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-01-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000464711
- ClinVar Disease
- Dilated cardiomyopathy 1D
- ClinVar Disease
- Hypertrophic cardiomyopathy 2
- ClinVar Disease
- Cardiomyopathy, familial restrictive, 3
- Observed Origin Sample
- germline
Drugs