Annotation Detail

Information
Associated Genes
CAV3 OXTR
Associated Variants
CAV3 p.Ala46Ser (p.A46S) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Ala46Ser (p.A46S) ( ENST00000343849.3, ENST00000397368.2 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_033337.3(CAV3):c.136G>T (p.Ala46Ser) AND not provided
ClinVar Allele ID
40409
ClinVar RefSeq Alternation Syntax
NM_033337.3:c.136G>T
ClinVar RefSeq Alternation Syntax
NM_001234.5:c.136G>T
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/RCV000024440
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs