Annotation Detail
Information
- Associated Genes
- EGFR
- Associated Variants
-
EGFR p.Pro753Ser (p.P753S)
(
ENST00000275493.7,
ENST00000450046.2,
ENST00000455089.5 )
EGFR p.Pro753Ser (p.P753S) ( ENST00000450046.2, ENST00000275493.7, ENST00000455089.5 ) - Associated Disease
- Head and neck neoplasm
- Source Database
- ClinVar
- Description
- NM_005228.5(EGFR):c.2257C>T (p.Pro753Ser) AND Head and neck neoplasm
- ClinVar Allele ID
- 362960
- ClinVar RefSeq Alternation Syntax
- NM_001346897.2:c.2122C>T
- ClinVar RefSeq Alternation Syntax
- NM_001346899.2:c.2122C>T
- ClinVar RefSeq Alternation Syntax
- NM_001346900.2:c.2098C>T
- ClinVar RefSeq Alternation Syntax
- NM_001346941.2:c.1456C>T
- ClinVar RefSeq Alternation Syntax
- NM_001346898.2:c.2257C>T
- ClinVar RefSeq Alternation Syntax
- NM_005228.5:c.2257C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2014-12-26
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000441908
- ClinVar Disease
- Head and neck neoplasm
- Observed Origin Sample
- somatic
Drugs