Annotation Detail
Information
- Associated Genes
- CLCN1
- Associated Variants
-
CLCN1 p.Leu198Val (p.L198V)
(
ENST00000343257.7,
ENST00000650516.2 )
CLCN1 p.Leu198Val (p.L198V) ( ENST00000343257.7, ENST00000650516.2 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000083.3(CLCN1):c.592C>G (p.Leu198Val) AND not provided
- ClinVar Allele ID
- 33898
- ClinVar RefSeq Alternation Syntax
- NM_000083.3:c.592C>G
- ClinVar RefSeq Alternation Syntax
- NR_046453.2:n.694C>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2017-03-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000517112
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs