Annotation Detail
Information
- Associated Genes
- EGFR EGFR-AS1
- Associated Variants
-
EGFR p.Gly810Asp (p.G810D)
(
ENST00000275493.7,
ENST00000455089.5,
ENST00000450046.2 )
EGFR p.Gly810Asp (p.G810D) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 ) - Associated Disease
- squamous cell carcinoma
- Source Database
- ClinVar
- Description
- NM_005228.5(EGFR):c.2429G>A (p.Gly810Asp) AND Squamous cell carcinoma
- ClinVar Allele ID
- 363158
- ClinVar RefSeq Alternation Syntax
- NM_001346897.2:c.2294G>A
- ClinVar RefSeq Alternation Syntax
- NM_001346941.2:c.1628G>A
- ClinVar RefSeq Alternation Syntax
- NM_005228.5:c.2429G>A
- ClinVar RefSeq Alternation Syntax
- NR_047551.1:n.1133C>T
- ClinVar RefSeq Alternation Syntax
- NM_001346899.2:c.2294G>A
- ClinVar RefSeq Alternation Syntax
- NM_001346900.2:c.2270G>A
- ClinVar RefSeq Alternation Syntax
- NM_001346898.2:c.2429G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2015-07-14
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000425650
- ClinVar Disease
- Squamous cell carcinoma
- Observed Origin Sample
- somatic
Drugs