chr7:55181320:>GGGTTA Detail (hg38) (EGFR)

Information

Genome

Assembly Position
hg19 chr7:55,249,013-55,249,013 
hg38 chr7:55,181,320-55,181,320

HGVS

Type Transcript Protein
RefSeq NM_005228.3:c.2310_2311insGGGTTA NP_005219.2:p.Asp770_Asn771insGlyLeu
NM_001346897.1:c.2175_2176insGGGTTA NP_001333826.1:p.Asp725_Asn726insGlyLeu
Ensemble ENST00000275493.7:c.2310_2311insGGGTTA ENST00000275493.7:p.Asp770_Asn771insGlyLeu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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 COSM48921 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
lung adenocarcinoma Erlotinib C Predictive Supports Resistance Somatic 24353160 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In a study of 19 non-small cell lung carcinoma patients with EGFR exon 20 insertion mutation and tre... CIViC Evidence 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
-
Genome
hg38
Position
chr7:55,181,320-55,181,320
Variant Type
snv
Reference Allele
-
Alternative Allele
GGGTTA
Variant (CIViC) (CIViC Variant)
D770_N771insGL
Transcript 1 (CIViC Variant)
ENST00000275493.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1514
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