Annotation Detail
Information
- Associated Genes
- TNNT2
- Associated Variants
-
TNNT2 p.Asn279Lys (p.N279K)
(
ENST00000714316.2,
ENST00000438742.6,
ENST00000367318.10,
ENST00000714313.1,
ENST00000714314.1,
ENST00000714312.1,
ENST00000422165.6,
ENST00000509001.5,
ENST00000367322.6,
ENST00000658476.1,
ENST00000367320.6,
ENST00000412633.3,
ENST00000656932.1,
ENST00000455702.7,
ENST00000714317.1,
ENST00000660295.1 )
TNNT2 p.Asn279Lys (p.N279K) ( 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
- hypertrophic cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_001276345.2(TNNT2):c.837C>A (p.Asn279Lys) AND Hypertrophic cardiomyopathy
- ClinVar Allele ID
- 172356
- ClinVar RefSeq Alternation Syntax
- NM_001001430.3:c.807C>A
- ClinVar RefSeq Alternation Syntax
- NM_000364.4:c.828C>A
- ClinVar RefSeq Alternation Syntax
- NM_001276347.2:c.807C>A
- ClinVar RefSeq Alternation Syntax
- NM_001276345.2:c.837C>A
- ClinVar RefSeq Alternation Syntax
- NM_001276346.2:c.708C>A
- ClinVar RefSeq Alternation Syntax
- NM_001001431.3:c.798C>A
- ClinVar RefSeq Alternation Syntax
- NM_001001432.3:c.789C>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2013-02-13
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000154493
- ClinVar Disease
- Hypertrophic cardiomyopathy
- Observed Origin Sample
- germline
Drugs