chr7:55160240:A>C Detail (hg38) (EGFR)

Information

Genome

Assembly Position
hg19 chr7:55,227,933-55,227,933 View the variant detail on this assembly version.
hg38 chr7:55,160,240-55,160,240

HGVS

Type Transcript Protein
RefSeq NM_005228.3:c.1400A>C NP_005219.2:p.Lys467Thr
NM_201282.1:c.1400A>C NP_958439.1:p.Lys467Thr
NM_201284.1:c.1400A>C NP_958441.1:p.Lys467Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[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 tgv129569805 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
colorectal cancer Futuximab/Modotuximab Mixture,Panitumumab D Predictive Supports Sensitivity/Response Somatic 3 26888827 Detail
colorectal cancer Cetuximab D Predictive Supports Resistance Somatic 3 26888827 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In this preclinical study on the effects of cetuximab, panitumumab or sym004 on various EGFR mutatio... CIViC Evidence Detail
In this preclinical study on the effects of cetuximab, panitumumab or sym004 on various EGFR mutatio... 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
chr7:55,160,240-55,160,240
Variant Type
snv
Reference Allele
A
Alternative Allele
C
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
Variant (CIViC) (CIViC Variant)
K467T
Transcript 1 (CIViC Variant)
ENST00000275493.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/455
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