Annotation Detail
Information
- Associated Genes
- TTN TTN-AS1
- Associated Variants
-
TTN p.Ala31081= (p.A31081=)
(
ENST00000460472.6,
ENST00000359218.11,
ENST00000591111.5,
ENST00000342992.11,
ENST00000589042.5,
ENST00000342175.12,
ENST00000446966.2,
ENST00000715174.1 )
TTN p.Ala31081= (p.A31081=) ( 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.93243C>T (p.Ala31081=) AND Tibial muscular dystrophy
- ClinVar Allele ID
- 56694
- ClinVar RefSeq Alternation Syntax
- NM_001256850.1:c.88320C>T
- ClinVar RefSeq Alternation Syntax
- NM_133432.3:c.66423C>T
- ClinVar RefSeq Alternation Syntax
- NM_133378.4:c.85539C>T
- ClinVar RefSeq Alternation Syntax
- NM_001267550.2:c.93243C>T
- ClinVar RefSeq Alternation Syntax
- NM_133437.4:c.66624C>T
- ClinVar RefSeq Alternation Syntax
- NM_003319.4:c.66048C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-09-10
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000292385
- ClinVar Disease
- Tibial muscular dystrophy
- Observed Origin Sample
- germline
Drugs