Annotation Detail
Information
- Associated Genes
- CAV3 OXTR
- Associated Variants
-
CAV3 p.Ala46Thr (p.A46T)
(
ENST00000343849.3,
ENST00000397368.2 )
CAV3 p.Ala46Thr (p.A46T) ( ENST00000343849.3, ENST00000397368.2 ) - Source Database
- ClinVar
- Description
- NM_033337.3(CAV3):c.136G>A (p.Ala46Thr) AND Elevated circulating creatine kinase concentration
- ClinVar Allele ID
- 23320
- ClinVar RefSeq Alternation Syntax
- NM_033337.3:c.136G>A
- ClinVar RefSeq Alternation Syntax
- NM_001234.5:c.136G>A
- 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/RCV000008774
- Observed Origin Sample
- germline
- Pubmed
- 1146501
- Pubmed
- 11001938
- Pubmed
- 30055862
- Pubmed
- 11431690
- Pubmed
- 15580566
- Pubmed
- 10227634
Drugs