Annotation Detail

Information
Associated Genes
MET
Associated Variants
MET p.His1112Arg (p.H1112R) ( ENST00000318493.11, ENST00000397752.8 )
MET p.His1112Arg (p.H1112R) ( ENST00000318493.11, ENST00000397752.8 )
Associated Disease
renal carcinoma
Source Database
ClinVar
Description
NM_000245.4(MET):c.3281A>G (p.His1094Arg) AND Renal carcinoma
ClinVar Allele ID
28926
ClinVar RefSeq Alternation Syntax
NM_000245.4:c.3281A>G
ClinVar RefSeq Alternation Syntax
NM_001324402.2:c.1991A>G
ClinVar RefSeq Alternation Syntax
NM_001127500.3:c.3335A>G
Clinical Significance Description
Likely pathogenic
Clinical Significance Last Update
2015-07-14
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000433739
ClinVar Disease
Renal carcinoma
Observed Origin Sample
somatic
Drugs