Annotation Detail
Information
- Associated Genes
- TTN
- Associated Variants
-
TTN p.Arg279Trp (p.R279W)
(
ENST00000342175.12,
ENST00000342992.11,
ENST00000359218.11,
ENST00000360870.10,
ENST00000446966.2,
ENST00000460472.6,
ENST00000589042.5,
ENST00000591111.5,
ENST00000634225.2,
ENST00000715174.1 )
TTN p.Arg279Trp (p.R279W) ( ENST00000342175.12, ENST00000342992.11, ENST00000359218.11, ENST00000360870.10, ENST00000446966.2, ENST00000460472.6, ENST00000589042.5, ENST00000591111.5, ENST00000634225.2, ENST00000715174.1 ) - Associated Disease
- tibial muscular dystrophy
- Source Database
- ClinVar
- Description
- NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) AND Tibial muscular dystrophy
- ClinVar Allele ID
- 27698
- ClinVar RefSeq Alternation Syntax
- NM_133378.4:c.835C>T
- ClinVar RefSeq Alternation Syntax
- NM_133432.3:c.835C>T
- ClinVar RefSeq Alternation Syntax
- NM_001267550.2:c.835C>T
- ClinVar RefSeq Alternation Syntax
- NM_003319.4:c.835C>T
- ClinVar RefSeq Alternation Syntax
- NM_133379.5:c.835C>T
- ClinVar RefSeq Alternation Syntax
- NM_001256850.1:c.835C>T
- ClinVar RefSeq Alternation Syntax
- NM_133437.4:c.835C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2017-04-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001134416
- ClinVar Disease
- Tibial muscular dystrophy
- Observed Origin Sample
- germline
Drugs