chr7:55174014:G>C Detail (hg38) (EGFR)

Information

Genome

Assembly Position
hg19 chr7:55,241,707-55,241,707 View the variant detail on this assembly version.
hg38 chr7:55,174,014-55,174,014

HGVS

Type Transcript Protein
RefSeq NM_005228.3:c.2155G>C NP_005219.2:p.Gly719Arg
NM_001346897.1:c.2020G>C NP_001333826.1:p.Gly674Arg
Ensemble ENST00000275493.7:c.2155G>C ENST00000275493.7:p.Gly719Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2009-08-10 no assertion criteria provided Non-small cell lung carcinoma somatic Detail
drug response no assertion criteria provided Squamous cell carcinoma of the head and neck not provided 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>C (p.Gly719Arg) AND Non-small cell lung carcinoma ClinVar Detail
NM_005228.5(EGFR):c.2155G>C (p.Gly719Arg) AND Squamous cell carcinoma of the head and neck 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
hg38
Position
chr7:55,174,014-55,174,014
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser