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 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_033337.3(CAV3):c.136G>A (p.Ala46Thr) AND not provided
- 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
- 2022-08-31
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000024382
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
- Observed Origin Sample
- de novo
Drugs