chr7:55191831:T>G Detail (hg38) (EGFR)

Information

Genome

Assembly Position
hg19 chr7:55,259,524-55,259,524 View the variant detail on this assembly version.
hg38 chr7:55,191,831-55,191,831

HGVS

Type Transcript Protein
RefSeq NM_005228.3:c.2582T>G NP_005219.2:p.Leu861Arg
NM_001346897.1:c.2447T>G NP_001333826.1:p.Leu816Arg
Ensemble ENST00000275493.7:c.2582T>G ENST00000275493.7:p.Leu861Arg
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
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 COSM12374 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2013-06-17 criteria provided, single submitter not specified somatic Detail
Likely pathogenic 2014-12-26 no assertion criteria provided Squamous cell lung carcinoma somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.385 Non-small cell lung carcinoma Epidermal growth factor receptor (EGFR) gene mutations (G719X, exon 19 deletions... BeFree 24353160 Detail
0.005 mucoepidermoid carcinoma EGFR L861Q mutation is a frequent feature of pulmonary mucoepidermoid carcinoma. BeFree 22526156 Detail
0.360 adenocarcinoma EGFR L861Q mutation was detected in both small-cell lung cancer and adenocarcino... BeFree 24195468 Detail
0.385 Non-small cell lung carcinoma Effectiveness of gefitinib against non-small-cell lung cancer with the uncommon ... BeFree 24419415 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005228.5(EGFR):c.2582T>G (p.Leu861Arg) AND not specified ClinVar Detail
NM_005228.5(EGFR):c.2582T>G (p.Leu861Arg) AND Squamous cell lung carcinoma ClinVar Detail
Epidermal growth factor receptor (EGFR) gene mutations (G719X, exon 19 deletions/insertions, L858R, ... DisGeNET Detail
EGFR L861Q mutation is a frequent feature of pulmonary mucoepidermoid carcinoma. DisGeNET Detail
EGFR L861Q mutation was detected in both small-cell lung cancer and adenocarcinoma components. DisGeNET Detail
Effectiveness of gefitinib against non-small-cell lung cancer with the uncommon EGFR mutations G719X... 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
rs121913444 dbSNP
Genome
hg38
Position
chr7:55,191,831-55,191,831
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Genome browser