Annotation Detail
Information
- Associated Genes
- CAV3 OXTR
- Associated Variants
-
CAV3 p.Ala93Thr (p.A93T)
(
ENST00000343849.3,
ENST00000397368.2 )
CAV3 p.Ala93Thr (p.A93T) ( ENST00000343849.3, ENST00000397368.2 ) - Source Database
- ClinVar
- Description
- NM_033337.3(CAV3):c.277G>A (p.Ala93Thr) AND Cardiovascular phenotype
- ClinVar Allele ID
- 23324
- ClinVar RefSeq Alternation Syntax
- NM_033337.3:c.277G>A
- ClinVar RefSeq Alternation Syntax
- NM_001234.5:c.277G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-07-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000622234
- Observed Origin Sample
- germline
Drugs