chr7:55159349:A>T 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	chr7:55,159,349-55,159,349
hg38	chr7:55,091,656-55,091,656 View the variant detail on this assembly version.

HGVS

EGFR

Type	Transcript	Protein
RefSeq	NM_005228.3:c.89-50630A>T
	NM_201282.1:c.89-50630A>T
	NM_201284.1:c.89-50630A>T
	NM_201283.1:c.89-50630A>T
	NM_001346897.1:c.89-50630A>T
Ensemble	ENST00000275493.7:c.89-50630A>T
	ENST00000342916.7:c.89-50630A>T
	ENST00000344576.7:c.89-50630A>T
	ENST00000420316.6:c.89-50630A>T
	ENST00000455089.5:c.89-50630A>T

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.130	Glioma	Seven independent chromosomal loci have robustly been associated with glioma ris...	BeFree	21825990	Detail
0.257	Glioma	Seven independent chromosomal loci have robustly been associated with glioma ris...	BeFree	21825990	Detail
0.223	Glioma	Seven independent chromosomal loci have robustly been associated with glioma ris...	BeFree	21825990	Detail
0.173	Glioma	Genome-wide association studies have identified single-nucleotide polymorphisms ...	BeFree	23161787	Detail
0.223	Glioma	[Chromosome 7p11.2 (EGFR) variation influences glioma risk.]	GAD	21531791	Detail
0.252	Glioma	Genome-wide association studies have identified single-nucleotide polymorphisms ...	BeFree	23161787	Detail
0.257	Glioma	Genome-wide association studies have identified single-nucleotide polymorphisms ...	BeFree	23161787	Detail
0.269	Glioma	Seven independent chromosomal loci have robustly been associated with glioma ris...	BeFree	21825990	Detail
0.136	Glioma	Seven independent chromosomal loci have robustly been associated with glioma ris...	BeFree	21825990	Detail
0.136	Glioma	Genome-wide association studies have identified single-nucleotide polymorphisms ...	BeFree	23161787	Detail
0.223	Glioma	Chromosome 7p11.2 (EGFR) variation influences glioma risk.	GWASCAT	21531791	Detail
0.252	Glioma	Seven independent chromosomal loci have robustly been associated with glioma ris...	BeFree	21825990	Detail
0.130	Glioma	Genome-wide association studies have identified single-nucleotide polymorphisms ...	BeFree	23161787	Detail

Annotation

Annotations

Descrption	Source	Links
Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610...	DisGeNET	Detail
Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610...	DisGeNET	Detail
Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610...	DisGeNET	Detail
Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci inf...	DisGeNET	Detail
[Chromosome 7p11.2 (EGFR) variation influences glioma risk.]	DisGeNET	Detail
Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci inf...	DisGeNET	Detail
Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci inf...	DisGeNET	Detail
Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610...	DisGeNET	Detail
Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610...	DisGeNET	Detail
Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci inf...	DisGeNET	Detail
Chromosome 7p11.2 (EGFR) variation influences glioma risk.	DisGeNET	Detail
Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610...	DisGeNET	Detail
Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci inf...	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs11979158 dbSNP
Genome: hg19
Position: chr7:55,159,349-55,159,349
Variant Type: snv
Reference Allele: A
Alternative Allele: T

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