chr7:55174769:CAAGGAATTAAGAGAAGC>AAA Detail (hg38) (EGFR)

Information

Genome

Assembly Position
hg19 chr7:55,242,462-55,242,479 View the variant detail on this assembly version.
hg38 chr7:55,174,769-55,174,786

HGVS

Type Transcript Protein
RefSeq NM_005228.3:c.2232_2249delinsAAA NP_005219.2:p.Glu746_Ala750del
NM_001346897.1:c.2097_2114delinsAAA NP_001333826.1:p.Glu701_Ala705del
Ensemble ENST00000275493.7:c.2232_2249delinsAAA ENST00000275493.7:p.Glu746_Ala750del
Summary

MGeND

Clinical significance
Variant entry
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 COSM3734668 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
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.2232_2249delinsAAA (p.Glu746_Ala750del) 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
rs397517094 dbSNP
Genome
hg38
Position
chr7:55,174,769-55,174,786
Variant Type
snv
Reference Allele
CAAGGAATTAAGAGAAGC
Alternative Allele
AAA
Genome browser