chr7:55242470:TAAGAGAAG> Detail (hg19) (EGFR)

Information

Genome

Assembly Position
hg19 chr7:55,242,470-55,242,478
hg38 chr7:55,174,777-55,174,785 

HGVS

Type Transcript Protein
RefSeq NM_001346897.1:c.2105_2113delTAAGAGAAG NP_001333826.1:p.Leu702_Ala705delinsSer
NM_005228.3:c.2240_2248delTAAGAGAAG NP_005219.2:p.Leu747_Ala750delinsSer
Ensemble ENST00000455089.5:c.2105_2113delTAAGAGAAG ENST00000455089.5:p.Leu702_Ala705delinsSer
Summary

MGeND

Clinical significance not provided
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
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 COSM4170221 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided Non-small cell lung cancer somatic MGS000026
(TMGS000046) 		Manabu Muto Kyoto University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2008-03-01 no assertion criteria provided Non-small cell lung carcinoma 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

DescrptionSourceLinks
NM_005228.5(EGFR):c.2240_2248del (p.Leu747_Ala750delinsSer) AND Non-small cell lung carcinoma 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
rs397517098 dbSNP
Genome
hg19
Position
chr7:55,242,470-55,242,478
Variant Type
snv
Reference Allele
TAAGAGAAG
Alternative Allele
-
Genome browser