chr7:55249005:GC>TT 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	chr7:55,249,005-55,249,006
hg38	chr7:55,181,312-55,181,313 View the variant detail on this assembly version.

HGVS

EGFR

Type	Transcript	Protein
RefSeq	NM_005228.3:c.2303_2304delinsTT	NP_005219.2:p.Ser768Ile
	NM_001346897.1:c.2168_2169delinsTT	NP_001333826.1:p.Ser723Ile
Ensemble	ENST00000275493.7:c.2303_2304delinsTT	ENST00000275493.7:p.Ser768Ile
	ENST00000450046.2:c.2144_2145delinsTT	ENST00000450046.2:p.Ser715Ile
	ENST00000455089.5:c.2168_2169delinsTT	ENST00000455089.5:p.Ser723Ile

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2013-01-04	criteria provided, single submitter	Non-small cell lung carcinoma	somatic	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.200	Adenocarcinoma of lung (disorder)	Non-responsiveness to gefitinib in a patient with lung adenocarcinoma having rar...	BeFree	17045698	Detail
0.009	Non-small cell lung cancer metastatic	We describe a case of a 63- year-old female with metastatic nonsmall cell lung c...	BeFree	25882025	Detail

Annotation

Annotations

Descrption	Source	Links
NM_005228.5(EGFR):c.2303_2304delinsTT (p.Ser768Ile) AND Non-small cell lung carcinoma	ClinVar	Detail
Non-responsiveness to gefitinib in a patient with lung adenocarcinoma having rare EGFR mutations S76...	DisGeNET	Detail
We describe a case of a 63- year-old female with metastatic nonsmall cell lung cancer with complex E...	DisGeNET	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: rs397517108 dbSNP
Genome: hg19
Position: chr7:55,249,005-55,249,006
Variant Type: snv
Reference Allele: GC
Alternative Allele: TT

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