Annotation Detail
Information
- Associated Genes
- EGFR
- Associated Variants
-
EGFR p.Pro1019Thr (p.P1019T)
(
ENST00000275493.7,
ENST00000450046.2,
ENST00000455089.5 )
EGFR p.Pro1019Thr (p.P1019T) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 ) - Associated Disease
- Glioblastoma multiforme, somatic
- Source Database
- ClinVar
- Description
- NM_005228.5(EGFR):c.3055C>A (p.Pro1019Thr) AND Glioblastoma multiforme, somatic
- ClinVar Allele ID
- 623005
- ClinVar RefSeq Alternation Syntax
- NM_005228.5:c.3055C>A
- ClinVar RefSeq Alternation Syntax
- NM_001346899.2:c.2920C>A
- ClinVar RefSeq Alternation Syntax
- NM_001346898.2:c.3055C>A
- ClinVar RefSeq Alternation Syntax
- NM_001346941.2:c.2254C>A
- ClinVar RefSeq Alternation Syntax
- NM_001346897.2:c.2920C>A
- ClinVar RefSeq Alternation Syntax
- NM_001346900.2:c.2896C>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2019-05-21
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000786033
- ClinVar Disease
- Glioblastoma multiforme, somatic
- Observed Origin Sample
- somatic
Drugs