Annotation Detail
Information
- Associated Genes
- EGFR
- Associated Variants
-
EGFR p.Arg521Lys (p.R521K)
(
ENST00000342916.7,
ENST00000344576.7,
ENST00000275493.7,
ENST00000455089.5,
ENST00000450046.2 )
EGFR p.Arg521Lys (p.R521K) ( ENST00000275493.7, ENST00000342916.7, ENST00000344576.7, ENST00000450046.2, ENST00000455089.5 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_005228.5(EGFR):c.1562G>A (p.Arg521Lys) AND not specified
- ClinVar Allele ID
- 137760
- ClinVar RefSeq Alternation Syntax
- NM_201282.2:c.1562G>A
- ClinVar RefSeq Alternation Syntax
- NM_001346897.2:c.1427G>A
- ClinVar RefSeq Alternation Syntax
- NM_001346900.2:c.1403G>A
- ClinVar RefSeq Alternation Syntax
- NM_001346941.2:c.761G>A
- ClinVar RefSeq Alternation Syntax
- NM_005228.5:c.1562G>A
- ClinVar RefSeq Alternation Syntax
- NM_201284.2:c.1562G>A
- ClinVar RefSeq Alternation Syntax
- NM_001346898.2:c.1562G>A
- ClinVar RefSeq Alternation Syntax
- NM_001346899.2:c.1427G>A
- Clinical Significance Description
- Benign
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000120690
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs