Annotation Detail
Information
- Associated Genes
- EGFR
- Associated Variants
-
EGFR p.Ala289Val (p.A289V)
(
ENST00000275493.7,
ENST00000342916.7,
ENST00000344576.7,
ENST00000420316.6,
ENST00000450046.2,
ENST00000455089.5 )
EGFR p.Ala289Val (p.A289V) ( ENST00000275493.7, ENST00000342916.7, ENST00000420316.6, ENST00000344576.7, ENST00000450046.2, ENST00000455089.5 ) - Associated Disease
- Neoplasm of brain
- Source Database
- ClinVar
- Description
- NM_005228.5(EGFR):c.866C>T (p.Ala289Val) AND Neoplasm of brain
- ClinVar Allele ID
- 363088
- ClinVar RefSeq Alternation Syntax
- NM_001346899.2:c.731C>T
- ClinVar RefSeq Alternation Syntax
- NM_201282.2:c.866C>T
- ClinVar RefSeq Alternation Syntax
- NM_001346897.2:c.731C>T
- ClinVar RefSeq Alternation Syntax
- NM_001346941.2:c.89-1701C>T
- ClinVar RefSeq Alternation Syntax
- NM_201283.2:c.866C>T
- ClinVar RefSeq Alternation Syntax
- NM_005228.5:c.866C>T
- ClinVar RefSeq Alternation Syntax
- NM_001346900.2:c.707C>T
- ClinVar RefSeq Alternation Syntax
- NM_201284.2:c.866C>T
- ClinVar RefSeq Alternation Syntax
- NM_001346898.2:c.866C>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/RCV000423749
- ClinVar Disease
- Neoplasm of brain
- Observed Origin Sample
- somatic
Drugs