Annotation Detail
Information
- Associated Genes
- MET
- Associated Variants
-
MET p.Tyr1248Cys (p.Y1248C)
(
ENST00000318493.11,
ENST00000397752.8 )
MET p.Tyr1248Cys (p.Y1248C) ( ENST00000318493.11, ENST00000397752.8 ) - Associated Disease
- renal cell carcinoma
- Source Database
- ClinVar
- Description
- NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys) AND Renal cell carcinoma
- ClinVar Allele ID
- 28924
- ClinVar RefSeq Alternation Syntax
- NM_001127500.3:c.3743A>G
- ClinVar RefSeq Alternation Syntax
- NM_001324402.2:c.2399A>G
- ClinVar RefSeq Alternation Syntax
- NM_000245.4:c.3689A>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-09-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001851861
- ClinVar Disease
- Renal cell carcinoma
- Observed Origin Sample
- germline
Drugs