Annotation Detail
Information
- Associated Genes
- EGFR
- Associated Variants
-
EGFR p.Lys757Arg (p.K757R)
(
ENST00000275493.7,
ENST00000450046.2,
ENST00000455089.5 )
EGFR p.Lys757Arg (p.K757R) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 ) - Associated Disease
- EGFR-related lung cancer
- Source Database
- ClinVar
- Description
- NM_005228.5(EGFR):c.2270A>G (p.Lys757Arg) AND EGFR-related lung cancer
- ClinVar Allele ID
- 550728
- ClinVar RefSeq Alternation Syntax
- NM_001346897.2:c.2135A>G
- ClinVar RefSeq Alternation Syntax
- NM_001346899.2:c.2135A>G
- ClinVar RefSeq Alternation Syntax
- NM_001346898.2:c.2270A>G
- ClinVar RefSeq Alternation Syntax
- NM_001346941.2:c.1469A>G
- ClinVar RefSeq Alternation Syntax
- NM_001346900.2:c.2111A>G
- ClinVar RefSeq Alternation Syntax
- NM_005228.5:c.2270A>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-12-26
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001302851
- ClinVar Disease
- EGFR-related lung cancer
- Observed Origin Sample
- germline
Drugs