Annotation Detail
Information
- Associated Genes
- CAV3 OXTR
- Associated Variants
-
CAV3 p.Glu47Lys (p.E47K)
(
ENST00000343849.3,
ENST00000397368.2 )
CAV3 p.Glu47Lys (p.E47K) ( ENST00000343849.3, ENST00000397368.2 ) - Associated Disease
- rippling muscle disease 2
- Source Database
- ClinVar
- Description
- NM_033337.3(CAV3):c.139G>A (p.Glu47Lys) AND Rippling muscle disease 2
- ClinVar Allele ID
- 23329
- ClinVar RefSeq Alternation Syntax
- NM_001234.5:c.139G>A
- ClinVar RefSeq Alternation Syntax
- NM_033337.3:c.139G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2005-10-25
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008787
- ClinVar Disease
- Rippling muscle disease 2
- Observed Origin Sample
- germline
- Pubmed
- 15580566
- Pubmed
- 16247063
Drugs