chr7:55241707:G>C 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	chr7:55,241,707-55,241,707
hg38	chr7:55,174,014-55,174,014 View the variant detail on this assembly version.

HGVS

EGFR

Type	Transcript	Protein
RefSeq	NM_005228.3:c.2155G>C	NP_005219.2:p.Gly719Arg
	NM_001346897.1:c.2020G>C	NP_001333826.1:p.Gly674Arg
Ensemble	ENST00000275493.7:c.2155G>C	ENST00000275493.7:p.Gly719Arg
	ENST00000450046.2:c.1996G>C	ENST00000450046.2:p.Gly666Arg
	ENST00000455089.5:c.2020G>C	ENST00000455089.5:p.Gly674Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic; drug response
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2009-08-10	no assertion criteria provided	Non-small cell lung carcinoma	somatic	Detail
drug response		no assertion criteria provided	Squamous cell carcinoma of the head and neck	not provided	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.385	Non-small cell lung carcinoma	NA	CLINVAR		Detail
0.023	Malignant tumor of colon	Through biochemical and cellular pharmacologic studies, we have determined that ...	BeFree	24894453	Detail
0.163	Squamous cell carcinoma of the head and neck	NA	CLINVAR		Detail
0.025	colon carcinoma	Through biochemical and cellular pharmacologic studies, we have determined that ...	BeFree	24894453	Detail

Annotation

Annotations

Descrption	Source	Links
NM_005228.5(EGFR):c.2155G>C (p.Gly719Arg) AND Non-small cell lung carcinoma	ClinVar	Detail
NM_005228.5(EGFR):c.2155G>C (p.Gly719Arg) AND Squamous cell carcinoma of the head and neck	ClinVar	Detail
NA	DisGeNET	Detail
Through biochemical and cellular pharmacologic studies, we have determined that cells harboring the ...	DisGeNET	Detail
NA	DisGeNET	Detail
Through biochemical and cellular pharmacologic studies, we have determined that cells harboring the ...	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: rs28929495 dbSNP
Genome: hg19
Position: chr7:55,241,707-55,241,707
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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