chr7:55249092:G>A Detail (hg19) (EGFR)

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Summary
Information
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Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr7:55,249,092-55,249,092
hg38	chr7:55,181,399-55,181,399 View the variant detail on this assembly version.

HGVS

EGFR

Type	Transcript	Protein
RefSeq	NM_005228.3:c.2390G>A	NP_005219.2:p.Cys797Tyr
	NM_001346897.1:c.2255G>A	NP_001333826.1:p.Cys752Tyr
Ensemble	ENST00000275493.7:c.2390G>A	ENST00000275493.7:p.Cys797Tyr
	ENST00000450046.2:c.2231G>A	ENST00000450046.2:p.Cys744Tyr
	ENST00000455089.5:c.2255G>A	ENST00000455089.5:p.Cys752Tyr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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Links

EGFR

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	COSM53104	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
malignant mesothelioma	Erlotinib	D	Predictive	Supports	Sensitivity/Response	Somatic		20942962	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
In an in vitro study, a COS-7 cell line expressing EGFR C797Y demonstrated increased sensitivity to ...	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: -
Genome: hg19
Position: chr7:55,249,092-55,249,092
Variant Type: snv
Reference Allele: G
Alternative Allele: A
Variant (CIViC) (CIViC Variant): C797Y
Transcript 1 (CIViC Variant): ENST00000275493.2
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1574

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