Annotation Detail
Information
- Associated Genes
- CLCN1
- Associated Variants
-
CLCN1 p.Gly230Glu (p.G230E)
(
ENST00000343257.7,
ENST00000650516.2 )
CLCN1 p.Gly230Glu (p.G230E) ( ENST00000343257.7, ENST00000650516.2 ) - Associated Disease
- Batten-Turner congenital myopathy
- Source Database
- ClinVar
- Description
- NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu) AND Batten-Turner congenital myopathy
- ClinVar Allele ID
- 32571
- ClinVar RefSeq Alternation Syntax
- NR_046453.2:n.791G>A
- ClinVar RefSeq Alternation Syntax
- NM_000083.3:c.689G>A
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000020113
- ClinVar Disease
- Batten-Turner congenital myopathy
- Observed Origin Sample
- germline
Drugs