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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the Aliases tab.

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.

rs121434569

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr7:55181378 (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.

Alleles
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.00003 (7/251464, GnomAD_exome)
T=0.00002 (3/125568, TOPMED)
T=0.00004 (5/121292, ExAC) (+ 2 more)
T=0.0000 (3/78692, PAGE_STUDY)
T=0.0001 (3/31398, GnomAD)
Clinical Significance
Reported in ClinVar
Gene : Consequence
EGFR : Missense Variant
EGFR-AS1 : Non Coding Transcript Variant
Publications
55 citations
Genomic View
See rs on genome
Help

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.55181378C>T
GRCh37.p13 chr 7 NC_000007.13:g.55249071C>T
EGFR RefSeqGene (LRG_304) NG_007726.3:g.167347C>T
Gene: EGFR, epidermal growth factor receptor (plus strand)
Molecule type Change Amino acid[Codon] SO Term
EGFR transcript variant 2 NM_201282.2: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_201284.2:c. N/A Genic Downstream Transcript Variant
EGFR transcript variant 7 NM_001346899.1:c.2234C>T T [ACG] > M [ATG] Coding Sequence Variant
epidermal growth factor receptor isoform g precursor NP_001333828.1:p.Thr745Met T (Thr) > M (Met) Missense Variant
EGFR transcript variant 1 NM_005228.5:c.2369C>T T [ACG] > M [ATG] Coding Sequence Variant
epidermal growth factor receptor isoform a precursor NP_005219.2:p.Thr790Met T (Thr) > M (Met) Missense Variant
EGFR transcript variant 6 NM_001346898.2:c.2369C>T T [ACG] > M [ATG] Coding Sequence Variant
epidermal growth factor receptor isoform f precursor NP_001333827.1:p.Thr790Met T (Thr) > M (Met) Missense Variant
EGFR transcript variant EGFRvIII NM_001346941.2:c.1568C>T T [ACG] > M [ATG] Coding Sequence Variant
epidermal growth factor receptor isoform i precursor NP_001333870.1:p.Thr523Met T (Thr) > M (Met) Missense Variant
EGFR transcript variant 8 NM_001346900.2:c.2210C>T T [ACG] > M [ATG] Coding Sequence Variant
epidermal growth factor receptor isoform h NP_001333829.1:p.Thr737Met T (Thr) > M (Met) Missense Variant
EGFR transcript variant 5 NM_001346897.2:c.2234C>T T [ACG] > M [ATG] Coding Sequence Variant
epidermal growth factor receptor isoform e precursor NP_001333826.1:p.Thr745Met T (Thr) > M (Met) 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.1193G>A N/A Non Coding Transcript Variant
Help

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: 31652 )
ClinVar Accession Disease Names Clinical Significance
RCV000018088.29 Nonsmall cell lung cancer, resistance to tyrosine kinase inhibitor in Protective
RCV000154232.1 Tyrosine kinase inhibitor response Drug-Response
RCV000154233.3 Non-small cell lung cancer Pathogenic-Likely-Pathogenic
RCV000211140.1 gefitinib response - Efficacy Drug-Response
RCV000211319.1 erlotinib response - Efficacy Drug-Response
RCV000425417.1 Lung cancer Likely-Pathogenic
RCV000557450.3 EGFR-related lung cancer Likely-Pathogenic
Help

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").

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Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 251464 C=0.99997 T=0.00003
gnomAD - Exomes European Sub 135390 C=0.99997 T=0.00003
gnomAD - Exomes Asian Sub 49008 C=1.0000 T=0.0000
gnomAD - Exomes American Sub 34590 C=1.0000 T=0.0000
gnomAD - Exomes African Sub 16256 C=0.9999 T=0.0001
gnomAD - Exomes Ashkenazi Jewish Sub 10080 C=1.0000 T=0.0000
gnomAD - Exomes Other Sub 6140 C=1.000 T=0.000
TopMed Global Study-wide 125568 C=0.99998 T=0.00002
ExAC Global Study-wide 121292 C=0.99996 T=0.00004
ExAC Europe Sub 73278 C=0.9999 T=0.0001
ExAC Asian Sub 25150 C=1.0000 T=0.0000
ExAC American Sub 11574 C=1.0000 T=0.0000
ExAC African Sub 10384 C=0.9999 T=0.0001
ExAC Other Sub 906 C=1.00 T=0.00
The PAGE Study Global Study-wide 78692 C=1.0000 T=0.0000
The PAGE Study AfricanAmerican Sub 32512 C=0.9999 T=0.0001
The PAGE Study Mexican Sub 10810 C=1.0000 T=0.0000
The PAGE Study Asian Sub 8316 C=1.000 T=0.000
The PAGE Study PuertoRican Sub 7918 C=1.000 T=0.000
The PAGE Study NativeHawaiian Sub 4530 C=1.000 T=0.000
The PAGE Study Cuban Sub 4230 C=1.000 T=0.000
The PAGE Study Dominican Sub 3828 C=1.000 T=0.000
The PAGE Study CentralAmerican Sub 2450 C=1.000 T=0.000
The PAGE Study SouthAmerican Sub 1982 C=1.000 T=0.000
The PAGE Study NativeAmerican Sub 1260 C=1.000 T=0.000
The PAGE Study SouthAsian Sub 856 C=1.00 T=0.00
gnomAD - Genomes Global Study-wide 31398 C=0.9999 T=0.0001
gnomAD - Genomes European Sub 18898 C=0.9999 T=0.0001
gnomAD - Genomes African Sub 8714 C=1.000 T=0.000
gnomAD - Genomes East Asian Sub 1560 C=1.000 T=0.000
gnomAD - Genomes Other Sub 1088 C=1.000 T=0.000
gnomAD - Genomes American Sub 848 C=1.00 T=0.00
gnomAD - Genomes Ashkenazi Jewish Sub 290 C=1.00 T=0.00
Help

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 C= T Note
GRCh38.p12 chr 7 NC_000007.14:g.55181378= NC_000007.14:g.55181378C>T
GRCh37.p13 chr 7 NC_000007.13:g.55249071= NC_000007.13:g.55249071C>T
EGFR RefSeqGene (LRG_304) NG_007726.3:g.167347= NG_007726.3:g.167347C>T
EGFR transcript variant 1 NM_005228.5:c.2369= NM_005228.5:c.2369C>T
EGFR transcript variant 1 NM_005228.4:c.2369= NM_005228.4:c.2369C>T
EGFR transcript variant 1 NM_005228.3:c.2369= NM_005228.3:c.2369C>T
EGFR transcript variant 8 NM_001346900.2:c.2210= NM_001346900.2:c.2210C>T
EGFR transcript variant 8 NM_001346900.1:c.2210= NM_001346900.1:c.2210C>T
EGFR transcript variant EGFRvIII NM_001346941.2:c.1568= NM_001346941.2:c.1568C>T
EGFR transcript variant EGFRvIII NM_001346941.1:c.1568= NM_001346941.1:c.1568C>T
EGFR transcript variant 6 NM_001346898.2:c.2369= NM_001346898.2:c.2369C>T
EGFR transcript variant 6 NM_001346898.1:c.2369= NM_001346898.1:c.2369C>T
EGFR transcript variant 5 NM_001346897.2:c.2234= NM_001346897.2:c.2234C>T
EGFR transcript variant 5 NM_001346897.1:c.2234= NM_001346897.1:c.2234C>T
EGFR transcript variant 7 NM_001346899.1:c.2234= NM_001346899.1:c.2234C>T
EGFR-AS1 transcript NR_047551.1:n.1193= NR_047551.1:n.1193G>A
epidermal growth factor receptor isoform a precursor NP_005219.2:p.Thr790= NP_005219.2:p.Thr790Met
epidermal growth factor receptor isoform h NP_001333829.1:p.Thr737= NP_001333829.1:p.Thr737Met
epidermal growth factor receptor isoform i precursor NP_001333870.1:p.Thr523= NP_001333870.1:p.Thr523Met
epidermal growth factor receptor isoform f precursor NP_001333827.1:p.Thr790= NP_001333827.1:p.Thr790Met
epidermal growth factor receptor isoform e precursor NP_001333826.1:p.Thr745= NP_001333826.1:p.Thr745Met
epidermal growth factor receptor isoform g precursor NP_001333828.1:p.Thr745= NP_001333828.1:p.Thr745Met
Help

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#.

13 SubSNP, 5 Frequency, 7 ClinVar submissions
No Submitter Submission ID Date (Build)
1 OMIM-CURATED-RECORDS ss256302284 Aug 26, 2010 (132)
2 DF-BWCC ss275515333 Nov 22, 2010 (133)
3 EVA_EXAC ss1688745705 Apr 01, 2015 (144)
4 ILLUMINA ss1959014466 Feb 12, 2016 (147)
5 HUMAN_LONGEVITY ss2294217562 Dec 20, 2016 (150)
6 GNOMAD ss2736449365 Nov 08, 2017 (151)
7 GNOMAD ss2747825597 Nov 08, 2017 (151)
8 GNOMAD ss2853377602 Nov 08, 2017 (151)
9 ILLUMINA ss3022737617 Nov 08, 2017 (151)
10 TOPMED ss3530770693 Nov 08, 2017 (151)
11 ILLUMINA ss3653270173 Oct 12, 2018 (152)
12 ILLUMINA ss3726446851 Jul 13, 2019 (153)
13 PAGE_CC ss3771372289 Jul 13, 2019 (153)
14 ExAC NC_000007.13 - 55249071 Oct 12, 2018 (152)
15 gnomAD - Genomes NC_000007.13 - 55249071 Jul 13, 2019 (153)
16 gnomAD - Exomes NC_000007.13 - 55249071 Jul 13, 2019 (153)
17 The PAGE Study NC_000007.14 - 55181378 Jul 13, 2019 (153)
18 TopMed NC_000007.14 - 55181378 Oct 12, 2018 (152)
19 ClinVar RCV000018088.29 Oct 12, 2018 (152)
20 ClinVar RCV000154232.1 Oct 12, 2018 (152)
21 ClinVar RCV000154233.3 Oct 12, 2018 (152)
22 ClinVar RCV000211140.1 Oct 12, 2018 (152)
23 ClinVar RCV000211319.1 Oct 12, 2018 (152)
24 ClinVar RCV000425417.1 Oct 12, 2018 (152)
25 ClinVar RCV000557450.3 Jul 13, 2019 (153)
Help

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
8811693, 101599822, 5611373, ss1688745705, ss1959014466, ss2736449365, ss2747825597, ss2853377602, ss3022737617, ss3653270173 NC_000007.13:55249070:C:T NC_000007.14:55181377:C:T (self)
RCV000018088.29, RCV000154232.1, RCV000154233.3, RCV000211140.1, RCV000211319.1, RCV000425417.1, RCV000557450.3, 593758, 365412147, ss256302284, ss275515333, ss2294217562, ss3530770693, ss3726446851, ss3771372289 NC_000007.14:55181377:C:T NC_000007.14:55181377:C:T (self)
Help

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

55 citations for rs121434569
PMID Title Author Year Journal
11423618 Clinical resistance to STI-571 cancer therapy caused by BCR-ABL gene mutation or amplification. Gorre ME et al. 2001 Science (New York, N.Y.)
15118073 Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. Lynch TJ et al. 2004 The New England journal of medicine
15118125 EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy. Paez JG et al. 2004 Science (New York, N.Y.)
15272417 A major lung cancer susceptibility locus maps to chromosome 6q23-25. Bailey-Wilson JE et al. 2004 American journal of human genetics
15329413 EGF receptor gene mutations are common in lung cancers from "never smokers" and are associated with sensitivity of tumors to gefitinib and erlotinib. Pao W et al. 2004 Proceedings of the National Academy of Sciences of the United States of America
15728811 EGFR mutation and resistance of non-small-cell lung cancer to gefitinib. Kobayashi S et al. 2005 The New England journal of medicine
15737014 Acquired resistance of lung adenocarcinomas to gefitinib or erlotinib is associated with a second mutation in the EGFR kinase domain. Pao W et al. 2005 PLoS medicine
15901872 EGFR mutation and response of lung cancer to gefitinib. Toyooka S et al. 2005 The New England journal of medicine
16258541 Inherited susceptibility to lung cancer may be associated with the T790M drug resistance mutation in EGFR. Bell DW et al. 2005 Nature genetics
17020982 Analysis of epidermal growth factor receptor gene mutation in patients with non-small cell lung cancer and acquired resistance to gefitinib. Kosaka T et al. 2006 Clinical cancer research
17085664 Novel D761Y and common secondary T790M mutations in epidermal growth factor receptor-mutant lung adenocarcinomas with acquired resistance to kinase inhibitors. Balak MN et al. 2006 Clinical cancer research
17332364 Epidermal growth factor receptor mutants from human lung cancers exhibit enhanced catalytic activity and increased sensitivity to gefitinib. Mulloy R et al. 2007 Cancer research
17510392 EGFR-T790M is a rare lung cancer susceptibility allele with enhanced kinase activity. Vikis H et al. 2007 Cancer research
18093943 MET amplification occurs with or without T790M mutations in EGFR mutant lung tumors with acquired resistance to gefitinib or erlotinib. Bean J et al. 2007 Proceedings of the National Academy of Sciences of the United States of America
18227510 The T790M mutation in EGFR kinase causes drug resistance by increasing the affinity for ATP. Yun CH et al. 2008 Proceedings of the National Academy of Sciences of the United States of America
18596266 Detection of mutations in EGFR in circulating lung-cancer cells. Maheswaran S et al. 2008 The New England journal of medicine
18981003 Effects of erlotinib in EGFR mutated non-small cell lung cancers with resistance to gefitinib. Costa DB et al. 2008 Clinical cancer research
18992959 Prospective phase II study of gefitinib in non-small cell lung cancer with epidermal growth factor receptor gene mutations. Sugio K et al. 2009 Lung cancer (Amsterdam, Netherlands)
19096324 Germ-line and somatic presentations of the EGFR T790M mutation in lung cancer. Prudkin L et al. 2009 Journal of thoracic oncology
19381876 Clinicopathologic and molecular features of epidermal growth factor receptor T790M mutation and c-MET amplification in tyrosine kinase inhibitor-resistant Chinese non-small cell lung cancer. Chen HJ et al. 2009 Pathology oncology research
19589612 Acquired resistance to gefitinib: the contribution of mechanisms other than the T790M, MET, and HGF status. Onitsuka T et al. 2010 Lung cancer (Amsterdam, Netherlands)
20033049 Novel mutant-selective EGFR kinase inhibitors against EGFR T790M. Zhou W et al. 2009 Nature
20068085 Analysis of genetic variants in never-smokers with lung cancer facilitated by an Internet-based blood collection protocol: a preliminary report. Girard N et al. 2010 Clinical cancer research
20129249 Preexistence and clonal selection of MET amplification in EGFR mutant NSCLC. Turke AB et al. 2010 Cancer cell
21194487 Clinical responses to EGFR-tyrosine kinase inhibitor retreatment in non-small cell lung cancer patients who benefited from prior effective gefitinib therapy: a retrospective analysis. Watanabe S et al. 2011 BMC cancer
21233402 Pretreatment EGFR T790M mutation and BRCA1 mRNA expression in erlotinib-treated advanced non-small-cell lung cancer patients with EGFR mutations. Rosell R et al. 2011 Clinical cancer research
21248300 Rebiopsy of lung cancer patients with acquired resistance to EGFR inhibitors and enhanced detection of the T790M mutation using a locked nucleic acid-based assay. Arcila ME et al. 2011 Clinical cancer research
21252721 Inherited germline T790M mutation and somatic epidermal growth factor receptor mutations in non-small cell lung cancer patients. Tibaldi C et al. 2011 Journal of thoracic oncology
21430269 Genotypic and histological evolution of lung cancers acquiring resistance to EGFR inhibitors. Sequist LV et al. 2011 Science translational medicine
21531810 Effectiveness of tyrosine kinase inhibitors on "uncommon" epidermal growth factor receptor mutations of unknown clinical significance in non-small cell lung cancer. Wu JY et al. 2011 Clinical cancer research
21921847 A noninvasive system for monitoring resistance to epidermal growth factor receptor tyrosine kinase inhibitors with plasma DNA. Nakamura T et al. 2011 Journal of thoracic oncology
22215752 Pretreatment epidermal growth factor receptor (EGFR) T790M mutation predicts shorter EGFR tyrosine kinase inhibitor response duration in patients with non-small-cell lung cancer. Su KY et al. 2012 Journal of clinical oncology
22452896 Afatinib versus placebo for patients with advanced, metastatic non-small-cell lung cancer after failure of erlotinib, gefitinib, or both, and one or two lines of chemotherapy (LUX-Lung 1): a phase 2b/3 randomised trial. Miller VA et al. 2012 The Lancet. Oncology
22588155 Screening for germline EGFR T790M mutations through lung cancer genotyping. Oxnard GR et al. 2012 Journal of thoracic oncology
22992668 Pharmacogenomics knowledge for personalized medicine. Whirl-Carrillo M et al. 2012 Clinical pharmacology and therapeutics
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
23540867 Concurrent molecular alterations in tumors with germ line epidermal growth factor receptor T790M mutations. Thomas A et al. 2013 Clinical lung cancer
23816963 LUX-Lung 4: a phase II trial of afatinib in patients with advanced non-small-cell lung cancer who progressed during prior treatment with erlotinib, gefitinib, or both. Katakami N et al. 2013 Journal of clinical oncology
24065731 Discovery of a mutant-selective covalent inhibitor of EGFR that overcomes T790M-mediated resistance in NSCLC. Walter AO et al. 2013 Cancer discovery
24202392 The quest to overcome resistance to EGFR-targeted therapies in cancer. Chong CR et al. 2013 Nature medicine
24453288 A patient with metastatic lung adenocarcinoma harboring concurrent EGFR L858R, EGFR germline T790M, and PIK3CA mutations: the challenge of interpreting results of comprehensive mutational testing in lung cancer. Lammers PE et al. 2014 Journal of the National Comprehensive Cancer Network
24478319 Poor response to erlotinib in patients with tumors containing baseline EGFR T790M mutations found by routine clinical molecular testing. Yu HA et al. 2014 Annals of oncology
24623981 The predictive role of pretreatment epidermal growth factor receptor T790M mutation on the progression-free survival of tyrosine-kinase inhibitor-treated non-small cell lung cancer patients: a meta-analysis. Ding D et al. 2014 OncoTargets and therapy
24636847 Response to pemetrexed rechallenge after acquired resistance of EGFR-TKI in a patient with advanced NSCLC. Li S et al. 2014 Lung cancer (Amsterdam, Netherlands)
24658966 A systematic profile of clinical inhibitors responsive to EGFR somatic amino acid mutations in lung cancer: implication for the molecular mechanism of drug resistance and sensitivity. Ai X et al. 2014 Amino acids
24729716 Primary concomitant EGFR T790M mutation predicted worse prognosis in non-small cell lung cancer patients. Li H et al. 2014 OncoTargets and therapy
24736066 Hereditary lung cancer syndrome targets never smokers with germline EGFR gene T790M mutations. Gazdar A et al. 2014 Journal of thoracic oncology
24736080 Germline EGFR T790M mutation found in multiple members of a familial cohort. Yu HA et al. 2014 Journal of thoracic oncology
24893891 AZD9291, an irreversible EGFR TKI, overcomes T790M-mediated resistance to EGFR inhibitors in lung cancer. Cross DA et al. 2014 Cancer discovery
25157968 Prospective enterprise-level molecular genotyping of a cohort of cancer patients. MacConaill LE et al. 2014 The Journal of molecular diagnostics
25668228 EGFR T790M resistance mutation in non small-cell lung carcinoma. Denis MG et al. 2015 Clinica chimica acta; international journal of clinical chemistry
25923549 AZD9291 in EGFR inhibitor-resistant non-small-cell lung cancer. Jänne PA et al. 2015 The New England journal of medicine
25923550 Rociletinib in EGFR-mutated non-small-cell lung cancer. Sequist LV et al. 2015 The New England journal of medicine
26515464 In vitro modeling to determine mutation specificity of EGFR tyrosine kinase inhibitors against clinically relevant EGFR mutants in non-small-cell lung cancer. Hirano T et al. 2015 Oncotarget
26720284 Osimertinib Responses After Disease Progression in Patients Who Had Been Receiving Rociletinib. Sequist LV et al. 2016 JAMA oncology

Genomic regions, transcripts, and products
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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.post308+0fe9b3b