Annotation Detail
Information
- Associated Genes
- TTN TTN-AS1 LOC129935182
- Associated Variants
-
TTN p.Gly35340= (p.G35340=)
(
ENST00000460472.6,
ENST00000589042.5,
ENST00000591111.5,
ENST00000342175.12,
ENST00000342992.11,
ENST00000359218.11,
ENST00000446966.2,
ENST00000715174.1 )
TTN p.Gly35340= (p.G35340=) ( ENST00000342175.12, ENST00000342992.11, ENST00000359218.11, ENST00000446966.2, ENST00000460472.6, ENST00000589042.5, ENST00000591111.5, ENST00000715174.1 ) - Associated Disease
- tibial muscular dystrophy
- Source Database
- ClinVar
- Description
- NM_001267550.2(TTN):c.106020T>C (p.Gly35340=) AND Tibial muscular dystrophy
- ClinVar Allele ID
- 285692
- ClinVar RefSeq Alternation Syntax
- NM_001256850.1:c.101097T>C
- ClinVar RefSeq Alternation Syntax
- NM_003319.4:c.78825T>C
- ClinVar RefSeq Alternation Syntax
- NM_133432.3:c.79200T>C
- ClinVar RefSeq Alternation Syntax
- NM_001267550.2:c.106020T>C
- ClinVar RefSeq Alternation Syntax
- NM_133378.4:c.98316T>C
- ClinVar RefSeq Alternation Syntax
- NM_133437.4:c.79401T>C
- 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/RCV000347759
- ClinVar Disease
- Tibial muscular dystrophy
- Observed Origin Sample
- germline
Drugs