Annotation Detail

Information
Associated Genes
AGO3 LOC126805696
Associated Variants
AGO3 p.Val580Leu (p.V580L) ( ENST00000246314.10, ENST00000373191.9 )
AGO3 p.Val580Leu (p.V580L) ( ENST00000246314.10, ENST00000373191.9 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_024852.4(AGO3):c.1738G>C (p.Val580Leu) AND not specified
ClinVar Allele ID
2728887
ClinVar RefSeq Alternation Syntax
NM_177422.3:c.1036G>C
ClinVar RefSeq Alternation Syntax
NM_024852.4:c.1738G>C
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2023-03-24
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV004331678
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs