Annotation Detail
Information
- Associated Genes
- CAV3 OXTR
- Associated Variants
-
CAV3 p.Phe97del (p.F97del)
(
ENST00000343849.3,
ENST00000397368.2 )
CAV3 p.Phe97del (p.F97del) ( ENST00000343849.3, ENST00000397368.2 ) - Source Database
- ClinVar
- Description
- NM_033337.3(CAV3):c.290_292del (p.Phe97del) AND Elevated circulating creatine kinase concentration
- ClinVar Allele ID
- 23325
- ClinVar RefSeq Alternation Syntax
- NM_001234.5:c.290_292del
- ClinVar RefSeq Alternation Syntax
- NM_033337.3:c.290_292del
- 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/RCV000008781
- Observed Origin Sample
- germline
- Pubmed
- 30055862
- Pubmed
- 14663034
- Pubmed
- 15580566
Drugs