chr7:55160191:C>T Detail (hg38) (EGFR)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr7:55,227,884-55,227,884 View the variant detail on this assembly version.
hg38	chr7:55,160,191-55,160,191

HGVS

EGFR

Type	Transcript	Protein
RefSeq	NM_005228.3:c.1351C>T	NP_005219.2:p.Arg451Cys
	NM_201282.1:c.1351C>T	NP_958439.1:p.Arg451Cys
	NM_201284.1:c.1351C>T	NP_958441.1:p.Arg451Cys
	NM_001346897.1:c.1216C>T	NP_001333826.1:p.Arg406Cys
Ensemble	ENST00000275493.7:c.1351C>T	ENST00000275493.7:p.Arg451Cys
	ENST00000342916.7:c.1351C>T	ENST00000342916.7:p.Arg451Cys
	ENST00000344576.7:c.1351C>T	ENST00000344576.7:p.Arg451Cys
	ENST00000450046.2:c.1192C>T	ENST00000450046.2:p.Arg398Cys
	ENST00000455089.5:c.1216C>T	ENST00000455089.5:p.Arg406Cys

Summary

MGeND

Clinical significance
Variant entry
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2023-08-06	criteria provided, single submitter	EGFR-related lung cancer	germline	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
colorectal cancer	Cetuximab,Panitumumab,Futuximab/Modotuximab Mixture	D	Predictive	Supports	Sensitivity/Response	Somatic	2	26888827	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
In this preclinical study on the effects of cetuximab, panitumumab or sym004 on various EGFR mutatio...	CIViC Evidence	Detail
NM_005228.5(EGFR):c.1351C>T (p.Arg451Cys) AND EGFR-related lung cancer	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: rs377567759 dbSNP
Genome: hg38
Position: chr7:55,160,191-55,160,191
Variant Type: snv
Reference Allele: C
Alternative Allele: T
Variant (CIViC) (CIViC Variant): R451C
Transcript 1 (CIViC Variant): ENST00000275493.2
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/454

Genome browser