EGFR COPY NUMBER VARIATION Detail (hg19) (EGFR)

Information

Genome

Assembly Position
hg19 chr7:55,086,794-55,279,321
hg38 chr7:55,019,101-55,211,628 View the variant detail on this assembly version.
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 131550 OMIM
HGNC 3236 HGNC
Ensembl ENSG00000146648 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
head and neck squamous cell carcinoma B Prognostic Supports Poor Outcome Somatic 4 17538160 Detail
lung non-small cell carcinoma Erlotinib,Gefitinib B Predictive Supports Sensitivity/Response Somatic 4 20826716 Detail
lung non-small cell carcinoma Gefitinib,Erlotinib B Predictive Supports Sensitivity/Response Somatic 4 27664271 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In 134 patients with head and neck squamous cancer 32 had copy number variations. Tumors with variat... CIViC Evidence Detail
The result of the analysis found that EGFR gene copy number was associated with increased OS and PFS... CIViC Evidence Detail
Among TKI-treated patients, increased EGFR gene copy number appears to be associated with improved s... CIViC Evidence Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
EGFR
Genome
hg19
Position
chr7:55,086,794-55,279,321
Variant Type
cnv
Variant (CIViC) (CIViC Variant)
COPY NUMBER VARIATION
Transcript 1 (CIViC Variant)
ENST00000275493.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/191
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