chr7:55249022:>AACCCCCAC Detail (hg19) (EGFR, EGFR-AS1)

Information

Genome

Assembly Position
hg19 chr7:55,249,022-55,249,022
hg38 chr7:55,181,329-55,181,329 

HGVS

Type Transcript Protein
RefSeq NM_001346897.1:c.2184_2185insAACCCCCAC NP_001333826.1:p.Asn726_His728dup
NM_005228.3:c.2319_2320insAACCCCCAC NP_005219.2:p.Asn771_His773dup
Ensemble ENST00000450046.2:c.2160_2161insAACCCCCAC ENST00000450046.2:p.Asn718_His720dup
Summary

MGeND

Clinical significance not provided
Variant entry 9
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 COSM48920 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
not provided bronchus or lung, unspecified not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
drug response 2012-04-20 no assertion criteria provided somatic Detail
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 lung adenocarcinoma patient harboring EGFR H773_V774insNPH mutation, EGFR H773_V774insNPH was a... CIViC Evidence Detail
NM_005228.5(EGFR):c.2311_2319dup (p.Asn771_His773dup) AND Tyrosine kinase inhibitor response 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
rs397517115 dbSNP
Genome
hg19
Position
chr7:55,249,022-55,249,022
Variant Type
snv
Reference Allele
-
Alternative Allele
AACCCCCAC
Variant (CIViC) (CIViC Variant)
H773_V774insNPH
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1513
Genome browser