chr7:55191839:G>A Detail (hg38) (EGFR)

Information

Genome

Assembly Position
hg19 chr7:55,259,532-55,259,532 View the variant detail on this assembly version.
hg38 chr7:55,191,839-55,191,839

HGVS

Type Transcript Protein
RefSeq NM_005228.3:c.2590G>A NP_005219.2:p.Ala864Thr
NM_001346897.1:c.2455G>A NP_001333826.1:p.Ala819Thr
Ensemble ENST00000275493.7:c.2590G>A ENST00000275493.7:p.Ala864Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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 COSM13197 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2021-12-08 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 Erlotinib D Predictive Supports Sensitivity/Response Somatic 19147750 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In an in vitro study, a Ba/F3 cell line expressing EGFR A864T demonstrated increased sensitivity to ... CIViC Evidence Detail
NM_005228.5(EGFR):c.2590G>A (p.Ala864Thr) 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
rs1171287261 dbSNP
Genome
hg38
Position
chr7:55,191,839-55,191,839
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Variant (CIViC) (CIViC Variant)
A864T
Transcript 1 (CIViC Variant)
ENST00000275493.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1187
Genome browser