Annotation Detail
Information
- Associated Genes
- TTN TTN-AS1
- Associated Variants
-
TTN p.Ala26774= (p.A26774=)
(
ENST00000460472.6,
ENST00000589042.5,
ENST00000342992.11,
ENST00000342175.12,
ENST00000591111.5,
ENST00000359218.11,
ENST00000446966.2,
ENST00000715174.1 )
TTN p.Ala26774= (p.A26774=) ( ENST00000342175.12, ENST00000342992.11, ENST00000359218.11, ENST00000446966.2, ENST00000460472.6, ENST00000589042.5, ENST00000591111.5, ENST00000715174.1 ) - Source Database
- ClinVar
- Description
- NM_001267550.2(TTN):c.80322C>T (p.Ala26774=) AND Cardiovascular phenotype
- ClinVar Allele ID
- 136128
- ClinVar RefSeq Alternation Syntax
- NM_001267550.2:c.80322C>T
- ClinVar RefSeq Alternation Syntax
- NM_133437.4:c.53703C>T
- ClinVar RefSeq Alternation Syntax
- NM_003319.4:c.53127C>T
- ClinVar RefSeq Alternation Syntax
- NM_001256850.1:c.75399C>T
- ClinVar RefSeq Alternation Syntax
- NM_133432.3:c.53502C>T
- ClinVar RefSeq Alternation Syntax
- NM_133378.4:c.72618C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-03-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002345423
- Observed Origin Sample
- germline
Drugs