chr7:55181321:>GCGTGGACA Detail (hg38) (EGFR, EGFR-AS1)

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

Genome

Assembly	Position
hg19	chr7:55,249,014-55,249,014
hg38	chr7:55,181,321-55,181,321

HGVS

EGFR

Type	Transcript	Protein
RefSeq	NM_005228.3:c.2311_2312insGCGTGGACA	NP_005219.2:p.Ser768_Asp770dup
	NM_001346897.1:c.2176_2177insGCGTGGACA	NP_001333826.1:p.Ser723_Asp725dup
Ensemble	ENST00000275493.7:c.2311_2312insGCGTGGACA	ENST00000275493.7:p.Ser768_Asp770dup
	ENST00000450046.2:c.2152_2153insGCGTGGACA	ENST00000450046.2:p.Ser715_Asp717dup
	ENST00000455089.5:c.2176_2177insGCGTGGACA	ENST00000455089.5:p.Ser723_Asp725dup

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	drug response
Review star
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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	COSM13428	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2006-10-28	no assertion criteria provided	Non-small cell lung carcinoma	somatic	Detail
drug response	2012-06-01	criteria provided, single submitter		somatic	Detail
Likely pathogenic		no assertion criteria provided	lung adenocarcinoma	somatic	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
lung non-small cell carcinoma	Erlotinib	D	Predictive	Supports	Resistance	Somatic		24353160	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
In an in vitro study, a Ba/F3 cell line expressing EGFR D770_N771insSVD demonstrated reduced sensiti...	CIViC Evidence	Detail
NM_005228.5(EGFR):c.2303_2311dup (p.Ser768_Asp770dup) AND Non-small cell lung carcinoma	ClinVar	Detail
NM_005228.5(EGFR):c.2303_2311dup (p.Ser768_Asp770dup) AND Tyrosine kinase inhibitor response	ClinVar	Detail
NM_005228.5(EGFR):c.2303_2311dup (p.Ser768_Asp770dup) AND Lung adenocarcinoma	ClinVar	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: -
dbSNP: rs397517109 dbSNP
Genome: hg38
Position: chr7:55,181,321-55,181,321
Variant Type: snv
Reference Allele: -
Alternative Allele: GCGTGGACA
Variant (CIViC) (CIViC Variant): D770_N771insSVD
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1445

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