Annotation Detail
Information
- Associated Genes
- EGFR
- Associated Variants
-
EGFR p.Arg451Cys (p.R451C)
(
ENST00000275493.7,
ENST00000342916.7,
ENST00000344576.7,
ENST00000450046.2,
ENST00000455089.5 )
EGFR p.Arg451Cys (p.R451C) ( ENST00000275493.7, ENST00000342916.7, ENST00000344576.7, ENST00000450046.2, ENST00000455089.5 ) - Associated Disease
- EGFR-related lung cancer
- Source Database
- ClinVar
- Description
- NM_005228.5(EGFR):c.1351C>T (p.Arg451Cys) AND EGFR-related lung cancer
- ClinVar Allele ID
- 1007506
- ClinVar RefSeq Alternation Syntax
- NM_001346899.2:c.1216C>T
- ClinVar RefSeq Alternation Syntax
- NM_001346900.2:c.1192C>T
- ClinVar RefSeq Alternation Syntax
- NM_201284.2:c.1351C>T
- ClinVar RefSeq Alternation Syntax
- NM_001346898.2:c.1351C>T
- ClinVar RefSeq Alternation Syntax
- NM_001346897.2:c.1216C>T
- ClinVar RefSeq Alternation Syntax
- NM_201282.2:c.1351C>T
- ClinVar RefSeq Alternation Syntax
- NM_001346941.2:c.550C>T
- ClinVar RefSeq Alternation Syntax
- NM_005228.5:c.1351C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-08-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001318027
- ClinVar Disease
- EGFR-related lung cancer
- Observed Origin Sample
- germline
Drugs