Annotation Detail
Information
- Associated Genes
- EGFR
- Associated Variants
-
EGFR p.Glu746_Ala750del (p.E746_A750del)
(
ENST00000275493.7,
ENST00000450046.2,
ENST00000455089.5 )
EGFR p.Glu746_Ala750del (p.E746_A750del) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 ) - Associated Disease
- EGFR-related lung cancer
- Source Database
- ClinVar
- Description
- NM_005228.5(EGFR):c.2235_2249del (p.Glu746_Ala750del) AND EGFR-related lung cancer
- ClinVar Allele ID
- 174234
- ClinVar RefSeq Alternation Syntax
- NM_001346899.2:c.2100_2114del
- ClinVar RefSeq Alternation Syntax
- NM_005228.5:c.2235_2249del
- ClinVar RefSeq Alternation Syntax
- NM_001346897.2:c.2100_2114del
- ClinVar RefSeq Alternation Syntax
- NM_001346900.2:c.2076_2090del
- ClinVar RefSeq Alternation Syntax
- NM_001346941.2:c.1434_1448del
- ClinVar RefSeq Alternation Syntax
- NM_001346898.2:c.2235_2249del
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-08-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002514895
- ClinVar Disease
- EGFR-related lung cancer
- Observed Origin Sample
- germline
Drugs