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
- Hereditary Myopathy with Early Respiratory Failure
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.482714418720803
- Year of publication
- NA
Drugs