Annotation Detail
Information
- Associated Genes
- MET
- Associated Variants
-
MET p.Met1149Thr (p.M1149T)
(
ENST00000318493.11,
ENST00000397752.8 )
MET p.Met1149Thr (p.M1149T) ( ENST00000318493.11, ENST00000397752.8 ) - Associated Disease
- Papillary renal cell carcinoma type 1
- Source Database
- ClinVar
- Description
- NM_000245.4(MET):c.3392T>C (p.Met1131Thr) AND Papillary renal cell carcinoma type 1
- ClinVar Allele ID
- 28920
- ClinVar RefSeq Alternation Syntax
- NM_001324402.2:c.2102T>C
- ClinVar RefSeq Alternation Syntax
- NM_000245.4:c.3392T>C
- ClinVar RefSeq Alternation Syntax
- NM_001127500.3:c.3446T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1997-05-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014895
- ClinVar Disease
- Papillary renal cell carcinoma type 1
- Observed Origin Sample
- germline
- Pubmed
- 9140397
Drugs