chr7:55174774:A>G Detail (hg38) (EGFR)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr7:55,242,467-55,242,467 View the variant detail on this assembly version.
hg38	chr7:55,174,774-55,174,774

HGVS

EGFR

Type	Transcript	Protein
RefSeq	NM_005228.3:c.2237A>G	NP_005219.2:p.Glu746Gly
	NM_001346897.1:c.2102A>G	NP_001333826.1:p.Glu701Gly
Ensemble	ENST00000275493.7:c.2237A>G	ENST00000275493.7:p.Glu746Gly
	ENST00000450046.2:c.2078A>G	ENST00000450046.2:p.Glu693Gly
	ENST00000455089.5:c.2102A>G	ENST00000455089.5:p.Glu701Gly

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	COSM6849765	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
lung adenocarcinoma	Erlotinib	C	Predictive	Supports	Sensitivity/Response	Somatic	1	26773740	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
In a meta-analysis of 7 clinical trials evaluating the efficacy of erlotinib, one patient was descri...	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: hg38
Position: chr7:55,174,774-55,174,774
Variant Type: snv
Reference Allele: A
Alternative Allele: G
Variant (CIViC) (CIViC Variant): E746G
Transcript 1 (CIViC Variant): ENST00000275493.2
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/724

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