chr7:55249118:A>G Detail (hg19) (EGFR, EGFR-AS1)

Information

Genome

Assembly Position
hg19 chr7:55,249,118-55,249,118
hg38 chr7:55,181,425-55,181,425 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005228.3:c.2416A>G NP_005219.2:p.Lys806Glu
NM_001346897.1:c.2281A>G NP_001333826.1:p.Lys761Glu
Ensemble ENST00000275493.7:c.2416A>G ENST00000275493.7:p.Lys806Glu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Uncertain significance
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 COSM28609 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2023-06-09 criteria provided, single submitter EGFR-related lung cancer germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
lung non-small cell carcinoma Gefitinib C Predictive Does Not Support Sensitivity/Response Somatic 2 21531810 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In a study, 1 participant with stage IIIB lung adenocarcinoma was sequenced at EGFR exons 18 to 21 a... CIViC Evidence Detail
NM_005228.5(EGFR):c.2416A>G (p.Lys806Glu) AND EGFR-related lung cancer 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
rs754652044 dbSNP
Genome
hg19
Position
chr7:55,249,118-55,249,118
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8640
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121296
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.4732884843688168E-5
Variant (CIViC) (CIViC Variant)
K806E
Transcript 1 (CIViC Variant)
ENST00000275493.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1895
Genome browser