Annotation Detail

Information
Associated Genes
MET
Associated Variants
MET p.Asp1246Asn (p.D1246N) ( ENST00000318493.11, ENST00000397752.8 )
MET p.Asp1246Asn (p.D1246N) ( ENST00000318493.11, ENST00000397752.8 )
Associated Disease
carcinoma
Source Database
ClinVar
Description
NM_000245.4(MET):c.3682G>A (p.Asp1228Asn) AND Carcinoma
ClinVar Allele ID
28923
ClinVar RefSeq Alternation Syntax
NM_001324402.2:c.2392G>A
ClinVar RefSeq Alternation Syntax
NM_000245.4:c.3682G>A
ClinVar RefSeq Alternation Syntax
NM_001127500.3:c.3736G>A
Clinical Significance Description
Likely pathogenic
Clinical Significance Last Update
2016-05-13
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000420939
ClinVar Disease
Carcinoma
Observed Origin Sample
somatic
Drugs