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dbSNP Short Genetic Variations

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.


Current Build 152

Released October 2, 2018

Homo sapiens
chr7:55181312 (GRCh38.p12) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Variation Type
SNV Single Nucleotide Variation
Clinical Significance
Reported in ClinVar
Gene : Consequence
EGFR : Missense Variant
EGFR-AS1 : Non Coding Transcript Variant
12 citations
Genomic View
See rs on genome

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p12 chr 7 NC_000007.14:g.55181312G>T
GRCh37.p13 chr 7 NC_000007.13:g.55249005G>T
EGFR RefSeqGene (LRG_304) NG_007726.3:g.167281G>T
Gene: EGFR, epidermal growth factor receptor (plus strand)
Molecule type Change Amino acid[Codon] SO Term
EGFR transcript variant 2 NM_201282.1:c. N/A Genic Downstream Transcript Variant
EGFR transcript variant 3 NM_201283.1:c. N/A Genic Downstream Transcript Variant
EGFR transcript variant 4 NM_201284.1:c. N/A Genic Downstream Transcript Variant
EGFR transcript variant 5 NM_001346897.1:c.2168G>T S [AGC] > I [ATC] Coding Sequence Variant
epidermal growth factor receptor isoform e precursor NP_001333826.1:p.Ser723Ile S (Ser) > I (Ile) Missense Variant
EGFR transcript variant 7 NM_001346899.1:c.2168G>T S [AGC] > I [ATC] Coding Sequence Variant
epidermal growth factor receptor isoform g precursor NP_001333828.1:p.Ser723Ile S (Ser) > I (Ile) Missense Variant
EGFR transcript variant 8 NM_001346900.1:c.2144G>T S [AGC] > I [ATC] Coding Sequence Variant
epidermal growth factor receptor isoform h NP_001333829.1:p.Ser715Ile S (Ser) > I (Ile) Missense Variant
EGFR transcript variant 6 NM_001346898.1:c.2303G>T S [AGC] > I [ATC] Coding Sequence Variant
epidermal growth factor receptor isoform f precursor NP_001333827.1:p.Ser768Ile S (Ser) > I (Ile) Missense Variant
EGFR transcript variant 1 NM_005228.4:c.2303G>T S [AGC] > I [ATC] Coding Sequence Variant
epidermal growth factor receptor isoform a precursor NP_005219.2:p.Ser768Ile S (Ser) > I (Ile) Missense Variant
EGFR transcript variant EGFRvIII NM_001346941.1:c.1502G>T S [AGC] > I [ATC] Coding Sequence Variant
epidermal growth factor receptor isoform i precursor NP_001333870.1:p.Ser501Ile S (Ser) > I (Ile) Missense Variant
Gene: EGFR-AS1, EGFR antisense RNA 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
EGFR-AS1 transcript NR_047551.1:n.1259C>A N/A Non Coding Transcript Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: T (allele ID: 54418 )
ClinVar Accession Disease Names Clinical Significance
RCV000038407.4 Non-small cell lung cancer Pathogenic
RCV000428042.1 Carcinoma of esophagus Likely-Pathogenic
RCV000435248.1 Squamous cell lung carcinoma Likely-Pathogenic

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").


Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= T Note
GRCh38.p12 chr 7 NC_000007.14:g.55181312G= NC_000007.14:g.55181312G>T
GRCh37.p13 chr 7 NC_000007.13:g.55249005G= NC_000007.13:g.55249005G>T
EGFR RefSeqGene (LRG_304) NG_007726.3:g.167281G= NG_007726.3:g.167281G>T
EGFR transcript variant 1 NM_005228.4:c.2303G= NM_005228.4:c.2303G>T
EGFR transcript variant 1 NM_005228.3:c.2303G= NM_005228.3:c.2303G>T
EGFR transcript variant 7 NM_001346899.1:c.2168G= NM_001346899.1:c.2168G>T
EGFR transcript variant 8 NM_001346900.1:c.2144G= NM_001346900.1:c.2144G>T
EGFR transcript variant EGFRvIII NM_001346941.1:c.1502G= NM_001346941.1:c.1502G>T
EGFR transcript variant 6 NM_001346898.1:c.2303G= NM_001346898.1:c.2303G>T
EGFR transcript variant 5 NM_001346897.1:c.2168G= NM_001346897.1:c.2168G>T
EGFR-AS1 transcript NR_047551.1:n.1259C= NR_047551.1:n.1259C>A
epidermal growth factor receptor isoform a precursor NP_005219.2:p.Ser768= NP_005219.2:p.Ser768Ile
epidermal growth factor receptor isoform g precursor NP_001333828.1:p.Ser723= NP_001333828.1:p.Ser723Ile
epidermal growth factor receptor isoform h NP_001333829.1:p.Ser715= NP_001333829.1:p.Ser715Ile
epidermal growth factor receptor isoform i precursor NP_001333870.1:p.Ser501= NP_001333870.1:p.Ser501Ile
epidermal growth factor receptor isoform f precursor NP_001333827.1:p.Ser768= NP_001333827.1:p.Ser768Ile
epidermal growth factor receptor isoform e precursor NP_001333826.1:p.Ser723= NP_001333826.1:p.Ser723Ile

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

1 SubSNP, 3 ClinVar submissions
No Submitter Submission ID Date (Build)
1 DF-BWCC ss275515332 Nov 22, 2010 (133)
2 ClinVar RCV000038407.4 Oct 12, 2018 (152)
3 ClinVar RCV000428042.1 Oct 12, 2018 (152)
4 ClinVar RCV000435248.1 Oct 12, 2018 (152)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss275515332 NC_000007.14:55181311:G= NC_000007.14:55181311:G= (self)
RCV000038407.4, RCV000428042.1, RCV000435248.1, ss275515332 NC_000007.14:55181311:G>T NC_000007.14:55181311:G>T (self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

12 citations for rs121913465
PMID Title Author Year Journal
15623594 High frequency of epidermal growth factor receptor mutations with complex patterns in non-small cell lung cancers related to gefitinib responsiveness in Taiwan. Huang SF et al. 2004 Clinical cancer research
16205628 Distinctive activation patterns in constitutively active and gefitinib-sensitive EGFR mutants. Chen YR et al. 2006 Oncogene
16707764 Gefitinib-sensitizing mutations in esophageal carcinoma. Guo M et al. 2006 The New England journal of medicine
16863509 EGFR point mutation in non-small cell lung cancer is occasionally accompanied by a second mutation or amplification. Yokoyama T et al. 2006 Cancer science
17653080 EGFR mutants found in non-small cell lung cancer show different levels of sensitivity to suppression of Src: implications in targeting therapy. Fu YN et al. 2008 Oncogene
19147750 Functional analysis of epidermal growth factor receptor (EGFR) mutations and potential implications for EGFR targeted therapy. Kancha RK et al. 2009 Clinical cancer research
19536777 Second-line treatments after first-line gefitinib therapy in advanced nonsmall cell lung cancer. Wu JY et al. 2010 International journal of cancer
20522446 Good clinical response to gefitinib in a non-small cell lung cancer patient harboring a rare somatic epidermal growth factor gene point mutation; codon 768 AGC > ATC in exon 20 (S768I). Masago K et al. 2010 Japanese journal of clinical oncology
22753918 Randomized phase II study of dacomitinib (PF-00299804), an irreversible pan-human epidermal growth factor receptor inhibitor, versus erlotinib in patients with advanced non-small-cell lung cancer. Ramalingam SS et al. 2012 Journal of clinical oncology
23102728 MEK inhibitors reverse resistance in epidermal growth factor receptor mutation lung cancer cells with acquired resistance to gefitinib. Huang MH et al. 2013 Molecular oncology
24033266 A systematic approach to assessing the clinical significance of genetic variants. Duzkale H et al. 2013 Clinical genetics
25157968 Prospective enterprise-level molecular genotyping of a cohort of cancer patients. MacConaill LE et al. 2014 The Journal of molecular diagnostics

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post104+4a6ee9c