Annotation Detail
Information
- Associated Genes
- CAV3 OXTR
- Associated Variants
-
CAV3 p.Ala46Val (p.A46V)
(
ENST00000343849.3,
ENST00000397368.2 )
CAV3 p.Ala46Val (p.A46V) ( ENST00000343849.3, ENST00000397368.2 ) - Associated Disease
- rippling muscle disease 2
- Source Database
- ClinVar
- Description
- NM_033337.3(CAV3):c.137C>T (p.Ala46Val) AND Rippling muscle disease 2
- ClinVar Allele ID
- 23321
- ClinVar RefSeq Alternation Syntax
- NM_033337.3:c.137C>T
- ClinVar RefSeq Alternation Syntax
- NM_001234.5:c.137C>T
- 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/RCV000008775
- ClinVar Disease
- Rippling muscle disease 2
- Observed Origin Sample
- germline
- Pubmed
- 2705900
- Pubmed
- 11431690
- Pubmed
- 15580566
Drugs