Annotation Detail
Information
- Associated Genes
- CAV3 OXTR
- Associated Variants
-
CAV3 p.Thr78Lys (p.T78K)
(
ENST00000397368.2,
ENST00000343849.3 )
CAV3 p.Thr78Lys (p.T78K) ( ENST00000343849.3, ENST00000397368.2 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_033337.3(CAV3):c.233C>A (p.Thr78Lys) AND not provided
- ClinVar Allele ID
- 136727
- ClinVar RefSeq Alternation Syntax
- NM_033337.3:c.233C>A
- ClinVar RefSeq Alternation Syntax
- NM_001234.5:c.233C>A
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000119382
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs