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
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_000245.4(MET):c.3281A>G (p.His1094Arg) AND Hereditary cancer-predisposing syndrome
- 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
- Pathogenic
- Clinical Significance Last Update
- 2020-09-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002321481
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs