chr7:55228009:C>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	chr7:55,228,009-55,228,009
hg38	chr7:55,160,316-55,160,316 View the variant detail on this assembly version.

HGVS

EGFR

Type	Transcript	Protein
RefSeq	NM_005228.3:c.1476C>A	NP_005219.2:p.Ser492Arg
	NM_201282.1:c.1476C>A	NP_958439.1:p.Ser492Arg
	NM_201284.1:c.1476C>A	NP_958441.1:p.Ser492Arg
	NM_001346897.1:c.1341C>A	NP_001333826.1:p.Ser447Arg
Ensemble	ENST00000275493.7:c.1476C>A	ENST00000275493.7:p.Ser492Arg
	ENST00000342916.7:c.1476C>A	ENST00000342916.7:p.Ser492Arg
	ENST00000344576.7:c.1476C>A	ENST00000344576.7:p.Ser492Arg
	ENST00000450046.2:c.1317C>A	ENST00000450046.2:p.Ser439Arg
	ENST00000455089.5:c.1341C>A	ENST00000455089.5:p.Ser447Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	not provided
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	COSM236670	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided	2016-03-10	no assertion provided	Neoplasm of the large intestine	somatic	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
colorectal cancer	Panitumumab	C	Predictive	Supports	Sensitivity/Response	Somatic	2	22270724	Detail
colorectal cancer	Panitumumab,Futuximab/Modotuximab Mixture	D	Predictive	Supports	Sensitivity/Response	Somatic	4	26888827	Detail
colorectal cancer	Cetuximab	D	Predictive	Supports	Resistance	Somatic	4	26888827	Detail
colorectal cancer	Cetuximab	C	Predictive	Supports	Resistance	Somatic	4	22270724	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
Tumor sequencing in pre- and post-therapy specimens from ten individuals with mCRC who experienced d...	CIViC Evidence	Detail
In this preclinical study of cetuximab, panitumumab or sym004 on various EGFR mutations in colorecta...	CIViC Evidence	Detail
In this preclinical study of the effects of cetuximab, panitumumab or sym004 on various EGFR mutatio...	CIViC Evidence	Detail
In-vitro studies found this mutation to confer resistance to cetuximab. 2 of 10 patients studied als...	CIViC Evidence	Detail
NM_005228.5(EGFR):c.1476C>A (p.Ser492Arg) AND Neoplasm of the large intestine	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: rs1057519860 dbSNP
Genome: hg19
Position: chr7:55,228,009-55,228,009
Variant Type: snv
Reference Allele: C
Alternative Allele: A
Variant (CIViC) (CIViC Variant): S492R
Transcript 1 (CIViC Variant): ENST00000275493.2
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/453

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