Annotation Detail
Information
- Associated Genes
- TTN TTN-AS1
- Associated Variants
-
TTN p.His25065Arg (p.H25065R)
(
ENST00000342992.11,
ENST00000460472.6,
ENST00000359218.11,
ENST00000591111.5,
ENST00000342175.12,
ENST00000589042.5,
ENST00000446966.2,
ENST00000715174.1 )
TTN p.His25065Arg (p.H25065R) ( ENST00000342175.12, ENST00000342992.11, ENST00000359218.11, ENST00000446966.2, ENST00000460472.6, ENST00000589042.5, ENST00000591111.5, ENST00000715174.1 ) - Associated Disease
- Myopathy, myofibrillar, 9, with early respiratory failure
- Source Database
- ClinVar
- Description
- NM_001267550.2(TTN):c.75194A>G (p.His25065Arg) AND Myopathy, myofibrillar, 9, with early respiratory failure
- ClinVar Allele ID
- 283252
- ClinVar RefSeq Alternation Syntax
- NM_001256850.1:c.70271A>G
- ClinVar RefSeq Alternation Syntax
- NM_133432.3:c.48374A>G
- ClinVar RefSeq Alternation Syntax
- NM_003319.4:c.47999A>G
- ClinVar RefSeq Alternation Syntax
- NM_133378.4:c.67490A>G
- ClinVar RefSeq Alternation Syntax
- NM_001267550.2:c.75194A>G
- ClinVar RefSeq Alternation Syntax
- NM_133437.4:c.48575A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-01-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000365719
- ClinVar Disease
- Myopathy, myofibrillar, 9, with early respiratory failure
- Observed Origin Sample
- germline
Drugs