Annotation Detail
Information
- Associated Genes
- CLCN1
- Associated Variants
-
CLCN1 p.Gly190Ser (p.G190S)
(
ENST00000343257.7,
ENST00000650516.2 )
CLCN1 p.Gly190Ser (p.G190S) ( ENST00000343257.7, ENST00000650516.2 ) - Associated Disease
- Congenital myotonia, autosomal recessive form
- Source Database
- ClinVar
- Description
- NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) AND Congenital myotonia, autosomal recessive form
- ClinVar Allele ID
- 205753
- ClinVar RefSeq Alternation Syntax
- NM_000083.3:c.568_569delinsTC
- ClinVar RefSeq Alternation Syntax
- NR_046453.2:n.670_671delinsTC
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2024-03-26
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000191069
- ClinVar Disease
- Congenital myotonia, autosomal recessive form
- Observed Origin Sample
- germline
Drugs