Annotation Detail
Information
- Associated Genes
- EGFR EGFR-AS1
- Associated Variants
-
EGFR p.Ala763_Tyr764insPheGlnGluAla (p.A763_Y764insFQEA)
(
ENST00000275493.7,
ENST00000450046.2,
ENST00000455089.5 )
EGFR p.Ala763_Tyr764insPheGlnGluAla (p.A763_Y764insFQEA) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 ) - Associated Disease
- Non-small cell lung carcinoma
- Source Database
- ClinVar
- Description
- NM_005228.5(EGFR):c.2284-5_2290dup AND Non-small cell lung carcinoma
- ClinVar Allele ID
- 54415
- ClinVar RefSeq Alternation Syntax
- NM_001346898.2:c.2284-5_2290dup
- ClinVar RefSeq Alternation Syntax
- NM_001346897.2:c.2149-5_2155dup
- ClinVar RefSeq Alternation Syntax
- NR_047551.1:n.1272_1283dup
- ClinVar RefSeq Alternation Syntax
- NM_001346941.2:c.1483-5_1489dup
- ClinVar RefSeq Alternation Syntax
- NM_001346900.2:c.2125-5_2131dup
- ClinVar RefSeq Alternation Syntax
- NM_005228.5:c.2284-5_2290dup
- ClinVar RefSeq Alternation Syntax
- NM_001346899.2:c.2149-5_2155dup
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2011-07-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000038404
- ClinVar Disease
- Non-small cell lung carcinoma
- Observed Origin Sample
- somatic
Drugs