Annotation Detail

Information
Associated Genes
MET
Associated Variants
MET p.Val1206Ile (p.V1206I) ( ENST00000318493.11, ENST00000397752.8 )
MET p.Val1206Ile (p.V1206I) ( ENST00000318493.11, ENST00000397752.8 )
Associated Disease
renal cell carcinoma
Source Database
ClinVar
Description
NM_000245.4(MET):c.3562G>A (p.Val1188Ile) AND Renal cell carcinoma
ClinVar Allele ID
522050
ClinVar RefSeq Alternation Syntax
NM_001324402.2:c.2272G>A
ClinVar RefSeq Alternation Syntax
NM_001127500.3:c.3616G>A
ClinVar RefSeq Alternation Syntax
NM_000245.4:c.3562G>A
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2017-11-08
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV002234389
ClinVar Disease
Renal cell carcinoma
Observed Origin Sample
germline
Drugs