Annotation Detail
Information
- Associated Genes
- EGFR EGFR-AS1
- Associated Variants
-
EGFR p.Val769Leu (p.V769L)
(
ENST00000275493.7,
ENST00000450046.2,
ENST00000455089.5 )
EGFR p.Val769Leu (p.V769L) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_005228.5(EGFR):c.2305G>C (p.Val769Leu) AND not specified
- ClinVar Allele ID
- 54421
- ClinVar RefSeq Alternation Syntax
- NM_001346899.2:c.2170G>C
- ClinVar RefSeq Alternation Syntax
- NM_001346898.2:c.2305G>C
- ClinVar RefSeq Alternation Syntax
- NM_001346941.2:c.1504G>C
- ClinVar RefSeq Alternation Syntax
- NM_001346897.2:c.2170G>C
- ClinVar RefSeq Alternation Syntax
- NM_005228.5:c.2305G>C
- ClinVar RefSeq Alternation Syntax
- NM_001346900.2:c.2146G>C
- ClinVar RefSeq Alternation Syntax
- NR_047551.1:n.1257C>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2008-02-25
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000038410
- ClinVar Disease
- not specified
- Observed Origin Sample
- somatic
Drugs