Annotation Detail
Information
- Associated Genes
- SELENON
- Associated Variants
-
SELENON p.Glu552Lys (p.E552K)
(
ENST00000361547.7,
ENST00000374315.1,
ENST00000354177.9 )
SELENON p.Glu552Lys (p.E552K) ( ENST00000354177.9, ENST00000361547.7, ENST00000374315.1 ) - Associated Disease
- Congenital myopathy with fiber type disproportion
- Source Database
- ClinVar
- Description
- NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys) AND Congenital myopathy with fiber type disproportion
- ClinVar Allele ID
- 101857
- ClinVar RefSeq Alternation Syntax
- NM_020451.3:c.1654G>A
- ClinVar RefSeq Alternation Syntax
- NM_206926.2:c.1552G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2019-12-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001329142
- ClinVar Disease
- Congenital myopathy with fiber type disproportion
- Observed Origin Sample
- unknown
Drugs