Annotation Detail

Information
Associated Genes
CAV3 OXTR
Associated Variants
CAV3 p.Thr64Ser (p.T64S) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Thr64Ser (p.T64S) ( ENST00000343849.3, ENST00000397368.2 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_033337.3(CAV3):c.191C>G (p.Thr64Ser) AND not provided
ClinVar Allele ID
23327
ClinVar RefSeq Alternation Syntax
NM_001234.5:c.191C>G
ClinVar RefSeq Alternation Syntax
NM_033337.3:c.191C>G
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/RCV000024395
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs