Annotation Detail
Information
- Associated Genes
- CAV3 OXTR
- Associated Variants
-
CAV3 p.Ala85Thr (p.A85T)
(
ENST00000343849.3,
ENST00000397368.2 )
CAV3 p.Ala85Thr (p.A85T) ( ENST00000343849.3, ENST00000397368.2 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_033337.3(CAV3):c.253G>A (p.Ala85Thr) AND not provided
- ClinVar Allele ID
- 23333
- ClinVar RefSeq Alternation Syntax
- NM_033337.3:c.253G>A
- ClinVar RefSeq Alternation Syntax
- NM_001234.5:c.253G>A
- Clinical Significance Description
- not provided
- Clinical Significance Last Update
- 2012-04-15
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000024430
- ClinVar Disease
- not provided
- Observed Origin Sample
- de novo
Drugs