Annotation Detail

Information
Associated Genes
CAV3 OXTR
Associated Variants
CAV3 p.Leu87Pro (p.L87P) ( ENST00000343849.3, ENST00000397368.2 )
CAV3 p.Leu87Pro (p.L87P) ( ENST00000343849.3, ENST00000397368.2 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_033337.3(CAV3):c.260T>C (p.Leu87Pro) AND not provided
ClinVar Allele ID
23323
ClinVar RefSeq Alternation Syntax
NM_001234.5:c.260T>C
ClinVar RefSeq Alternation Syntax
NM_033337.3:c.260T>C
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/RCV000024387
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs