Annotation Detail
Information
- Associated Genes
- EGFR EGFR-AS1
- Associated Variants
-
EGFR p.Thr790Met (p.T790M)
(
ENST00000275493.7,
ENST00000450046.2,
ENST00000455089.5 )
EGFR p.Thr790Met (p.T790M) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 ) - Associated Disease
- Inflammatory skin and bowel disease, neonatal, 2
- Source Database
- ClinVar
- Description
- NM_005228.5(EGFR):c.2369C>T (p.Thr790Met) AND Inflammatory skin and bowel disease, neonatal, 2
- ClinVar Allele ID
- 31652
- ClinVar RefSeq Alternation Syntax
- NM_001346941.2:c.1568C>T
- ClinVar RefSeq Alternation Syntax
- NM_001346897.2:c.2234C>T
- ClinVar RefSeq Alternation Syntax
- NM_001346898.2:c.2369C>T
- ClinVar RefSeq Alternation Syntax
- NR_047551.1:n.1193G>A
- ClinVar RefSeq Alternation Syntax
- NM_001346900.2:c.2210C>T
- ClinVar RefSeq Alternation Syntax
- NM_001346899.2:c.2234C>T
- ClinVar RefSeq Alternation Syntax
- NM_005228.5:c.2369C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-09-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003466864
- ClinVar Disease
- Inflammatory skin and bowel disease, neonatal, 2
- Observed Origin Sample
- unknown
Drugs