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
- Non-small cell lung carcinoma
- Source Database
- ClinVar
- Description
- NM_005228.5(EGFR):c.2232_2249delinsAAA (p.Glu746_Ala750del) AND Non-small cell lung carcinoma
- ClinVar Allele ID
- 54400
- ClinVar RefSeq Alternation Syntax
- NM_001346899.2:c.2097_2114delinsAAA
- ClinVar RefSeq Alternation Syntax
- NM_001346898.2:c.2232_2249delinsAAA
- ClinVar RefSeq Alternation Syntax
- NM_001346941.2:c.1431_1448delinsAAA
- ClinVar RefSeq Alternation Syntax
- NM_001346897.2:c.2097_2114delinsAAA
- ClinVar RefSeq Alternation Syntax
- NM_001346900.2:c.2073_2090delinsAAA
- ClinVar RefSeq Alternation Syntax
- NM_005228.5:c.2232_2249delinsAAA
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2008-03-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000038389
- ClinVar Disease
- Non-small cell lung carcinoma
- Observed Origin Sample
- somatic
Drugs