Annotation Detail
Information
- Associated Genes
- CLCN1
- Associated Variants
-
CLCN1 p.Pro480Leu (p.P480L)
(
ENST00000343257.7,
ENST00000650516.2 )
CLCN1 p.Pro480Leu (p.P480L) ( ENST00000343257.7, ENST00000650516.2 ) - Associated Disease
- Congenital myotonia, autosomal dominant form
- Source Database
- ClinVar
- Description
- NM_000083.3(CLCN1):c.1439C>T (p.Pro480Leu) AND Congenital myotonia, autosomal dominant form
- ClinVar Allele ID
- 32576
- ClinVar RefSeq Alternation Syntax
- NM_000083.3:c.1439C>T
- ClinVar RefSeq Alternation Syntax
- NR_046453.2:n.1394C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2003-04-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000019089
- ClinVar Disease
- Congenital myotonia, autosomal dominant form
- Observed Origin Sample
- germline
- Pubmed
- 11933197
- Pubmed
- 12661046
- Pubmed
- 8112288
Drugs