chr7:55174776:TTAAGAGAAGCAA>C Detail (hg38) (EGFR)

Information

Genome

Assembly Position
hg19 chr7:55,242,469-55,242,481 View the variant detail on this assembly version.
hg38 chr7:55,174,776-55,174,788

HGVS

Type Transcript Protein
RefSeq NM_005228.3:c.2239_2251delinsC NP_005219.2:p.Leu747_Thr751delinsPro
NM_001346897.1:c.2104_2116delinsC NP_001333826.1:p.Leu702_Thr706delinsPro
Ensemble ENST00000275493.7:c.2239_2251delinsC ENST00000275493.7:p.Leu747_Thr751delinsPro
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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 COSM12383 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
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
drug response 2006-10-28 no assertion criteria provided somatic Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_005228.5(EGFR):c.2239_2251delinsC (p.Leu747_Thr751delinsPro) AND Nonsmall cell lung cancer, respo... ClinVar Detail
NM_005228.5(EGFR):c.2239_2251delinsC (p.Leu747_Thr751delinsPro) AND Tyrosine kinase inhibitor respon... ClinVar 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
rs397509368 dbSNP
Genome
hg38
Position
chr7:55,174,776-55,174,788
Variant Type
snv
Reference Allele
TTAAGAGAAGCAA
Alternative Allele
C
Genome browser