chr7:55191749:G>C Detail (hg38) (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	chr7:55,259,442-55,259,442 View the variant detail on this assembly version.
hg38	chr7:55,191,749-55,191,749

HGVS

EGFR

Type	Transcript	Protein
RefSeq	NM_005228.3:c.2500G>C	NP_005219.2:p.Val834Leu
	NM_001346897.1:c.2365G>C	NP_001333826.1:p.Val789Leu
Ensemble	ENST00000275493.7:c.2500G>C	ENST00000275493.7:p.Val834Leu
	ENST00000450046.2:c.2341G>C	ENST00000450046.2:p.Val781Leu
	ENST00000455089.5:c.2365G>C	ENST00000455089.5:p.Val789Leu

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	2008-10-15	no assertion criteria provided	not specified	somatic	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.385	Non-small cell lung carcinoma	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_005228.5(EGFR):c.2500G>C (p.Val834Leu) AND not specified	ClinVar	Detail
NA	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: rs397517127 dbSNP
Genome: hg38
Position: chr7:55,191,749-55,191,749
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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