chr7:55241707:G>T Detail (hg19) (EGFR)

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

Type Transcript Protein
RefSeq NM_005228.3:c.2155G>T NP_005219.2:p.Gly719Cys
NM_001346897.1:c.2020G>T NP_001333826.1:p.Gly674Cys
Ensemble ENST00000275493.7:c.2155G>T ENST00000275493.7:p.Gly719Cys
Summary

MGeND

Clinical significance not provided
Variant entry 7
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic; drug response
Review star
Show details
Links
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 COSM6253 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
drug response 2004-05-20 no assertion criteria provided Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic somatic Detail
Pathogenic 2015-07-14 no assertion criteria provided Non-small cell lung carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided glioblastoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided lung adenocarcinoma somatic 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

DescrptionSourceLinks
NM_005228.5(EGFR):c.2155G>T (p.Gly719Cys) AND Nonsmall cell lung cancer, response to tyrosine kinase... ClinVar Detail
NM_005228.5(EGFR):c.2155G>T (p.Gly719Cys) AND Non-small cell lung carcinoma ClinVar Detail
NM_005228.5(EGFR):c.2155G>T (p.Gly719Cys) AND Glioblastoma ClinVar Detail
NM_005228.5(EGFR):c.2155G>T (p.Gly719Cys) AND Lung adenocarcinoma 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
T
Genome browser