Annotation Detail
Information
- Associated Genes
- CLCN1
- Associated Variants
-
CLCN1 p.Glu193Lys (p.E193K)
(
ENST00000343257.7,
ENST00000650516.2 )
CLCN1 p.Glu193Lys (p.E193K) ( ENST00000343257.7, ENST00000650516.2 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000083.3(CLCN1):c.577G>A (p.Glu193Lys) AND not provided
- ClinVar Allele ID
- 33897
- ClinVar RefSeq Alternation Syntax
- NM_000083.3:c.577G>A
- ClinVar RefSeq Alternation Syntax
- NR_046453.2:n.679G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2019-12-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003144110
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs