Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
EGFR p.Leu861Arg (p.L861R) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Leu861Arg (p.L861R) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_005228.5(EGFR):c.2582T>G (p.Leu861Arg) AND not specified
ClinVar Allele ID
54454
ClinVar RefSeq Alternation Syntax
NM_001346899.2:c.2447T>G
ClinVar RefSeq Alternation Syntax
NM_001346941.2:c.1781T>G
ClinVar RefSeq Alternation Syntax
NM_001346898.2:c.2582T>G
ClinVar RefSeq Alternation Syntax
NM_005228.5:c.2582T>G
ClinVar RefSeq Alternation Syntax
NM_001346900.2:c.2423T>G
ClinVar RefSeq Alternation Syntax
NM_001346897.2:c.2447T>G
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2013-06-17
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000038443
ClinVar Disease
not specified
Observed Origin Sample
somatic
Drugs