Annotation Detail
Information
- Associated Genes
- CLCN1
- Associated Variants
-
CLCN1 p.Arg105Cys (p.R105C)
(
ENST00000343257.7,
ENST00000650516.2 )
CLCN1 p.Arg105Cys (p.R105C) ( ENST00000343257.7, ENST00000650516.2 ) - Source Database
- ClinVar
- Description
- NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys) AND Tip-toe gait
- ClinVar Allele ID
- 305219
- ClinVar RefSeq Alternation Syntax
- NM_000083.3:c.313C>T
- ClinVar RefSeq Alternation Syntax
- NR_046453.2:n.415C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-11-15
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003319210
- Observed Origin Sample
- germline
Drugs