Annotation Detail

Information
Associated Genes
ACTB
Associated Variants
ACTB p.Leu65Val (p.L65V) ( ENST00000432588.6, ENST00000473257.3, ENST00000493945.6, ENST00000642480.2, ENST00000646664.1, ENST00000674681.1, ENST00000675515.1, ENST00000676319.1, ENST00000676397.1 )
ACTB p.Leu65Val (p.L65V) ( ENST00000432588.6, ENST00000473257.3, ENST00000493945.6, ENST00000642480.2, ENST00000646664.1, ENST00000674681.1, ENST00000675515.1, ENST00000676319.1, ENST00000676397.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_001101.5(ACTB):c.193C>G (p.Leu65Val) AND not provided
ClinVar Allele ID
38555
ClinVar RefSeq Alternation Syntax
NM_001101.5:c.193C>G
Clinical Significance Description
not provided
Clinical Significance Review Status
no assertion provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000059718
ClinVar Disease
not provided
Observed Origin Sample
not provided
Drugs