Annotation Detail
Information
- Associated Genes
- CAV3 OXTR
- Associated Variants
-
CAV3 p.Cys72Trp (p.C72W)
(
ENST00000343849.3,
ENST00000397368.2 )
CAV3 p.Cys72Trp (p.C72W) ( ENST00000343849.3, ENST00000397368.2 ) - Associated Disease
- rippling muscle disease 2
- Source Database
- ClinVar
- Description
- NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) AND Rippling muscle disease 2
- ClinVar Allele ID
- 23318
- ClinVar RefSeq Alternation Syntax
- NM_001234.5:c.216C>G
- ClinVar RefSeq Alternation Syntax
- NM_033337.3:c.216C>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2005-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008769
- ClinVar Disease
- Rippling muscle disease 2
- Observed Origin Sample
- germline
- Pubmed
- 9536092
- Pubmed
- 11251997
- Pubmed
- 15580566
Drugs