Annotation Detail
Information
- Associated Genes
- CHRND CHRNG
- Associated Variants
-
CHRND c.*885T>C
(
ENST00000258385.8,
ENST00000543200.5 )
CHRND c.*885T>C ( ENST00000258385.8, ENST00000543200.5 ) - Associated Disease
- Congenital Myasthenic Syndrome, Dominant/Recessive
- Source Database
- ClinVar
- Description
- NM_000751.3(CHRND):c.*885T>C AND Congenital Myasthenic Syndrome, Dominant/Recessive
- ClinVar Allele ID
- 285284
- ClinVar RefSeq Alternation Syntax
- NM_000751.3:c.*885T>C
- ClinVar RefSeq Alternation Syntax
- NM_001256657.2:c.*885T>C
- ClinVar RefSeq Alternation Syntax
- NM_001311195.2:c.*885T>C
- ClinVar RefSeq Alternation Syntax
- NM_001311196.2:c.*885T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2016-06-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000261184
- ClinVar Disease
- Congenital Myasthenic Syndrome, Dominant/Recessive
- Observed Origin Sample
- germline
Drugs