Annotation Detail
Information
- Associated Genes
- CLCN1
- Associated Variants
-
CLCN1 p.Phe307Ser (p.F307S)
(
ENST00000343257.7,
ENST00000650516.2 )
CLCN1 p.Phe307Ser (p.F307S) ( ENST00000343257.7, ENST00000650516.2 ) - Associated Disease
- Congenital myotonia, autosomal dominant form
- Source Database
- ClinVar
- Description
- NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) AND Congenital myotonia, autosomal dominant form
- ClinVar Allele ID
- 33902
- ClinVar RefSeq Alternation Syntax
- NM_000083.3:c.920T>C
- ClinVar RefSeq Alternation Syntax
- NR_046453.2:n.1025T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-04-20
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002243656
- ClinVar Disease
- Congenital myotonia, autosomal dominant form
- Observed Origin Sample
- paternal
Drugs