chr7:55249022:>AACCCCCAC Detail (hg19) (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	chr7:55,249,022-55,249,022
hg38	chr7:55,181,329-55,181,329

HGVS

EGFR

Type	Transcript	Protein
RefSeq	NM_001346897.1:c.2184_2185insAACCCCCAC	NP_001333826.1:p.Asn726_His728dup
	NM_005228.3:c.2319_2320insAACCCCCAC	NP_005219.2:p.Asn771_His773dup
Ensemble	ENST00000450046.2:c.2160_2161insAACCCCCAC	ENST00000450046.2:p.Asn718_His720dup
	ENST00000455089.5:c.2184_2185insAACCCCCAC	ENST00000455089.5:p.Asn726_His728dup
	ENST00000275493.7:c.2319_2320insAACCCCCAC	ENST00000275493.7:p.Asn771_His773dup

Summary

MGeND

Clinical significance	not provided
Variant entry	9
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	COSM48920	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		bronchus or lung, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided		bronchus or lung, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
drug response	2012-04-20	no assertion criteria provided		somatic	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
lung adenocarcinoma	Erlotinib	C	Predictive	Supports	Resistance	Somatic		24353160	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
In a lung adenocarcinoma patient harboring EGFR H773_V774insNPH mutation, EGFR H773_V774insNPH was a...	CIViC Evidence	Detail
NM_005228.5(EGFR):c.2311_2319dup (p.Asn771_His773dup) AND Tyrosine kinase inhibitor response	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: rs397517115 dbSNP
Genome: hg19
Position: chr7:55,249,022-55,249,022
Variant Type: snv
Reference Allele: -
Alternative Allele: AACCCCCAC
Variant (CIViC) (CIViC Variant): H773_V774insNPH
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1513

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