Annotation Detail
Information
- Associated Genes
- MET
- Associated Variants
-
MET p.Thr1010Ile (p.T1010I)
(
ENST00000318493.11,
ENST00000397752.8 )
MET p.Thr1010Ile (p.T1010I) ( ENST00000318493.11, ENST00000397752.8 ) - Source Database
- ClinVar
- Description
- NM_000245.4(MET):c.2975C>T (p.Thr992Ile) AND Congenital diaphragmatic hernia
- ClinVar Allele ID
- 50063
- ClinVar RefSeq Alternation Syntax
- NM_001324402.2:c.1685C>T
- ClinVar RefSeq Alternation Syntax
- NM_000245.4:c.2975C>T
- ClinVar RefSeq Alternation Syntax
- NM_001127500.3:c.3029C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2015-03-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000203290
- Observed Origin Sample
- germline
Drugs