AtlasGene
EGFR
epidermal growth factor receptor
- HGNC 3236↗(opens in a new tab)
- Ensembl gene ENSG00000146648↗(opens in a new tab)
- NCBI Gene 1956↗(opens in a new tab)
Summary
- Cytogenetic location
- 7p11.2
- Coordinates
- Chromosome 7: 55,019,017–55,211,628 (GRCh38)
- Exons
- 28 exons across 192.6 kb
- Protein
- 1,210 amino acids
- Also known as
- ERBB1, ERRP
- Previous symbols
- ERBB
- MANE Select transcript
- ENST00000275493.7NM_005228.5
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
AtlasThis page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/genes/egfr.json"
page <- fromJSON(url)
page$gene$nameRead EGFR, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome TestCurated reports relevant to this gene
Lung Cancer
A malignant neoplasm involving the lung.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
Inflammatory Bowel Diseases (IBD)
- Inflammatory Bowel Disease
A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type.
- 1 GenCC submitter rates it definitive or strong
How EGFR is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 9.9 kb of the gene's 192.6 kb; 3,633 of those bases code for the protein.
Sequencing EGFR
1Easy
How hard EGFR is to sequence with short reads, out of 100
0 · Easy100 · Hard
Almost all of EGFR's exons sit where short reads map cleanly.
What adds to it: the share of EGFR's exons in each kind of hard region
- MappabilityStretches where 100 or 250 bp reads cannot be placed uniquely, so a call there may be missing or wrong. Weight 35%.0%
- HomologySegmental duplications: copies elsewhere in the genome, such as paralogues and pseudogenes, at 90% identity or more. Weight 30%.0%
- RepeatsTandem repeats and runs of one base, which reads slip on and may not span. Weight 15%.1.1%
- GC contentWindows under 25% or over 65% G and C, which library preparation covers thinly. Weight 10%.7.4%
- Reference coverageGaps in the reference assembly nearby, where there is no sequence for reads to align to. Weight 10%.0%
A Dante Labs score from our own research, built on NIST's Genome in a Bottle maps of hard-to-sequence regions.How it's scoredEach bar is the share of EGFR's exon bases in that kind of difficult region. The score weighs them by how much each costs a short-read call: 0 when no base is in any, 100 when every base is in all of them.
16
positions in EGFR where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 192.6 kb of EGFR, introns included, not only the 9.9 kb of exons.
ClinVar pathogenic variants (18)
The EGFR variants ClinVar classifies pathogenic or likely pathogenic for any condition, reviewed by at least one submitter with criteria, and the most reviewed of them. It is ClinVar's public record of the gene, never a result.
- Pathogenic 11
- Likely pathogenic 7
| Variant | Conditions | ClinVar classification | Review status |
|---|---|---|---|
| NM_005228.5(EGFR):c.988G>A (p.Glu330Lys) (opens in a new tab) | lung adenocarcinoma | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_005228.5(EGFR):c.2127_2129del (p.Glu709_Thr710delinsAsp) (opens in a new tab) | non-small cell lung carcinoma | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_005228.5(EGFR):c.2156G>C (p.Gly719Ala) (opens in a new tab) | non-small cell lung carcinoma | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_005228.5(EGFR):c.2235_2249del (p.Glu746_Ala750del) (opens in a new tab) | lung adenocarcinoma | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_005228.5(EGFR):c.2303G>T (p.Ser768Ile) (opens in a new tab) | non-small cell lung carcinoma | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_005228.5(EGFR):c.2303_2304delinsTT (p.Ser768Ile) (opens in a new tab) | non-small cell lung carcinoma | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_005228.5(EGFR):c.2303_2305delinsTCT (p.Ser768_Val769delinsIleLeu) (opens in a new tab) | non-small cell lung carcinoma | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_005228.5(EGFR):c.2312_2314dup (p.Asn771_Pro772insHis) (opens in a new tab) | non-small cell lung carcinoma | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_005228.5(EGFR):c.2317delinsAACCCCT (p.His773delinsAsnProTyr) (opens in a new tab) | lung cancer | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_005228.5(EGFR):c.2492G>A (p.Arg831His) (opens in a new tab) | lung adenocarcinoma and 1 other | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_005228.5(EGFR):c.2500G>T (p.Val834Leu) (opens in a new tab) | non-small cell lung carcinoma | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_005228.5(EGFR):c.2284-5_2290dup (opens in a new tab) | non-small cell lung carcinoma | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_005228.5(EGFR):c.2309_2310insGTC (p.Asp770delinsGluSer) (opens in a new tab) | lung adenocarcinoma | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_005228.5(EGFR):c.2315_2320dup (p.His773_Val774insAlaHis) (opens in a new tab) | non-small cell lung carcinoma | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_005228.5(EGFR):c.2327G>A (p.Arg776His) (opens in a new tab) | lung cancer | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_005228.5(EGFR):c.2402A>G (p.Tyr801Cys) (opens in a new tab) | lung cancer | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_005228.5(EGFR):c.2527G>A (p.Val843Ile) (opens in a new tab) | lung cancer | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_005228.5(EGFR):c.2816_2819dup (p.Ile941fs) (opens in a new tab) | lung cancer | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
Genes linked to the same conditions
Traits linked to EGFR
The Human Phenotype Ontology lists these as features of the rare conditions EGFR can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-18: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.18-8b139e39.
Cite this page
Dante Labs. (n.d.). EGFR gene: epidermal growth factor receptor. Retrieved 18 October 2026, from https://dantelabs.com/genes/egfr
Dante Labs. EGFR gene: epidermal growth factor receptor [Internet]. [cited 18 October 2026]. Available from: https://dantelabs.com/genes/egfr
AtlasOne test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks