chr7:55242511:G>A Detail (hg19) (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	chr7:55,242,511-55,242,511
hg38	chr7:55,174,818-55,174,818 View the variant detail on this assembly version.

HGVS

EGFR

Type	Transcript	Protein
RefSeq	NM_001346897.1:c.2146G>A	NP_001333826.1:p.Asp716Asn
	NM_005228.3:c.2281G>A	NP_005219.2:p.Asp761Asn
Ensemble	ENST00000455089.5:c.2146G>A	ENST00000455089.5:p.Asp716Asn
	ENST00000275493.7:c.2281G>A	ENST00000275493.7:p.Asp761Asn
	ENST00000450046.2:c.2122G>A	ENST00000450046.2:p.Asp708Asn

Summary

MGeND

Clinical significance	Likely pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
Show details

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	COSM13188	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Likely pathogenic		Adenocarcinoma of stomach (disorder)	unknown	MGS000021 (TMGS000080)	Manabu Muto	Kyoto University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2015-07-14	no assertion criteria provided	Non-small cell lung carcinoma	somatic	Detail
Uncertain significance	2023-08-11	criteria provided, single submitter	EGFR-related lung cancer	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	adenocarcinoma	Novel D761Y and common secondary T790M mutations in epidermal growth factor rece...	BeFree	17085664	Detail

Annotation

Annotations

Descrption	Source	Links
NM_005228.5(EGFR):c.2281G>A (p.Asp761Asn) AND Non-small cell lung carcinoma	ClinVar	Detail
NM_005228.5(EGFR):c.2281G>A (p.Asp761Asn) AND EGFR-related lung cancer	ClinVar	Detail
Novel D761Y and common secondary T790M mutations in epidermal growth factor receptor-mutant lung ade...	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: rs121913418 dbSNP
Genome: hg19
Position: chr7:55,242,511-55,242,511
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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