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NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe)

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Interpretation:
Pathogenic​

Review status:
practice guideline
Submissions:
29 (Most recent: May 8, 2019)
Last evaluated:
Mar 3, 2004
Accession:
VCV000007105.6
Variation ID:
7105
Description:
3bp deletion
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NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe)

Allele ID
22144
Variant type
Deletion
Variant length
3 bp
Cytogenetic location
7q31.2
Genomic location
7: 117559592-117559594 (GRCh38) GRCh38 UCSC
7: 117199646-117199648 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.117199646_117199648del
NC_000007.14:g.117559592_117559594del
LRG_663t1:c.1521_1523del LRG_663p1:p.Phe508del
... more HGVS
Protein change
F508del
Other names
deltaF508
F508delF
DF508
Functional consequence
-
Global minor allele frequency (GMAF)
0.00399 (T)

Allele frequency
-
Links
PharmGKB Clinical Annotation: 981755820
ClinGen: CA118639
OMIM: 602421.0001
dbSNP: rs113993960
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 15 practice guideline Mar 3, 2004 RCV000007523.20
drug response 1 reviewed by expert panel Mar 27, 2018 RCV000211188.1
drug response 1 reviewed by expert panel Mar 28, 2018 RCV000417138.1
Pathogenic 7 criteria provided, multiple submitters, no conflicts Dec 12, 2018 RCV000058929.14
Pathogenic 1 criteria provided, single submitter Jun 5, 2014 RCV000624683.1
Likely pathogenic 1 criteria provided, single submitter Jan 1, 2017 RCV000626692.1
Pathogenic 1 criteria provided, single submitter Jan 1, 2017 RCV000626693.1
risk factor 1 no assertion criteria provided May 17, 2015 RCV000007524.9
Pathogenic 1 no assertion criteria provided Mar 13, 2014 RCV000119038.4

Clinical features observed in individuals with this variant

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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CFTR - - GRCh38
GRCh37
1304 1834
CFTR-AS1 - - - GRCh38 - 191

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
pathogenic
(Mar 03, 2004)
practice guideline
Method: curation
Cystic fibrosis
(Autosomal recessive inheritance)
Allele origin: germline
American College of Medical Genetics and Genomics (ACMG)
Study: The ACMG recommended carrier screening panel
Accession: SCV000071392.2
Submitted: (Jun 03, 2013)
Evidence details
Publications
PubMed (1)
pmc: 3110945
Comment:
Converted during submission to Pathogenic.
Pathogenic
(Mar 17, 2017)
reviewed by expert panel
Method: research
Cystic fibrosis
Allele origin: germline
CFTR2
Study: CFTR2
Accession: SCV000071493.4
Submitted: (Jun 29, 2017)
Evidence details
Other databases
https://cftr2.org
drug response
(Mar 27, 2018)
reviewed by expert panel
Method: curation
ivacaftor response - Efficacy
Drug used for Cystic Fibrosis
Allele origin: germline
PharmGKB
Accession: SCV000268159.3
Submitted: (Jun 18, 2018)
Comment:
Drug is not necessarily used to treat response condition
Evidence details
Publications
PubMed (9)
Other databases
https://www.pharmgkb.org/clini...
Comment:
PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or ... (more)
drug response
(Mar 28, 2018)
reviewed by expert panel
Method: curation
ivacaftor / lumacaftor response - Efficacy
Drug used for Cystic Fibrosis
Allele origin: germline
PharmGKB
Accession: SCV000494683.2
Submitted: (Jun 18, 2018)
Comment:
Drug is not necessarily used to treat response condition
Evidence details
Publications
PubMed (14)
Other databases
https://www.pharmgkb.org/clini...
Comment:
PharmGKB Level of Evidence 1B: Annotation for a variant-drug combination where the preponderance of evidence shows an association. The association must be replicated in more ... (more)
Pathogenic
(Oct 28, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000511517.1
Submitted: (Feb 17, 2017)
Evidence details
Pathogenic
(Oct 21, 2013)
criteria provided, single submitter
Method: research
Cystic fibrosis
Allele origin: unknown, paternal, maternal
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
Study: CSER-HudsonAlpha
Accession: SCV000584079.1
Submitted: (Jul 06, 2017)
Evidence details
Pathogenic
(Aug 26, 2016)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000594089.1
Submitted: (Jul 05, 2017)
Evidence details
Pathogenic
(Jun 05, 2014)
criteria provided, single submitter
Method: clinical testing
Hereditary disease
Allele origin: germline
Ambry Genetics
Accession: SCV000741228.1
Submitted: (Feb 08, 2018)
Evidence details
Publications
PubMed (18)
Comment:
Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Pathogenic
(May 02, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000602968.2
Submitted: (Oct 10, 2018)
Evidence details
Pathogenic
(Jul 30, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000329246.6
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The c.1521_1523delCTT pathogenic variant in the CFTR gene (also known as p.Phe508del or delta F508) is the most common variant identified in the CFTR gene, ... (more)
Pathogenic
(Dec 12, 2018)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Blueprint Genetics
Accession: SCV000928113.1
Submitted: (May 08, 2019)
Comment:
Patient analyzed with Primary Immunodeficiency Panel
Evidence details
Pathogenic
(Jan 09, 2019)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
Allele origin: germline
Invitae
Accession: SCV000074347.9
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change deletes 3 nucleotides from exon 11 of the CFTR mRNA (c.1521_1523delCTT). This leads to the deletion of one amino acid residue in ... (more)
Pathogenic
(Feb 06, 2014)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
(Autosomal recessive inheritance)
Allele origin: germline
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine
Accession: SCV000221179.4
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (5)
Comment:
The p.Phe508del variant in CFTR (also known as ?F508) is a deletion of a single amino acid at position 508 and is well-established as a ... (more)
Pathogenic
(Mar 30, 2016)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
Allele origin: germline
Knight Diagnostic Laboratories,Oregon Health and Sciences University
Study: CSER-NextGen
Accession: SCV000538017.1
Submitted: (Aug 10, 2016)
Evidence details
Comment:
The c.1521_1523delCTT (p.Phe508del), also known as ΔF508, is an in-frame deletion in the CFTR gene. This variant is the most common CF-causing mutation, accounting for ... (more)
Pathogenic
(Apr 15, 2015)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
Allele origin: unknown
Counsyl
Accession: SCV000678175.1
Submitted: (Jun 22, 2017)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Jan 01, 2017)
criteria provided, single submitter
Method: clinical testing
Duodenal stenosis
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV000747395.1
Submitted: (Dec 08, 2017)
Evidence details
Pathogenic
(Jan 01, 2017)
criteria provided, single submitter
Method: clinical testing
Recurrent pancreatitis
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV000747396.1
Submitted: (Dec 08, 2017)
Evidence details
Pathogenic
(Jan 15, 2019)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
(Autosomal recessive inheritance)
Allele origin: germline
Johns Hopkins Genomics,Johns Hopkins University
Accession: SCV000864219.1
Submitted: (Jan 17, 2019)
Evidence details
Pathogenic
(Nov 21, 2018)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
Allele origin: unknown
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne
Accession: SCV000883108.1
Submitted: (Nov 26, 2018)
Evidence details
Pathogenic
(Nov 05, 2018)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
Allele origin: unknown
Mendelics
Accession: SCV000886152.1
Submitted: (Nov 11, 2018)
Evidence details
Pathogenic
(Feb 05, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000889288.1
Submitted: (Aug 31, 2018)
Evidence details
Pathogenic
(Dec 30, 2017)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
Allele origin: unknown
Department of Genetics,Sultan Qaboos University Hospital, Oman
Accession: SCV000891676.1
Submitted: (Oct 25, 2018)
Evidence details
Publications
PubMed (1)
Pathogenic
(Jan 03, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000330918.4
Submitted: (Jun 30, 2017)
Evidence details
Other databases
http://www.egl-eurofins.com/em...
http://www.cftr2.org/
http://www.ncbi.nlm.nih.gov/si...
Pathogenic
(May 17, 2015)
no assertion criteria provided
Method: literature only
CYSTIC FIBROSIS
Allele origin: germline
OMIM
Accession: SCV000027724.8
Submitted: (Jul 13, 2016)
Evidence details
Publications
PubMed (22)
Grebe, T. A., Seltzer, W. K.,  (more...)
risk factor
(May 17, 2015)
no assertion criteria provided
Method: literature only
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF
Allele origin: germline
OMIM
Accession: SCV000053487.8
Submitted: (Jul 13, 2016)
Evidence details
Publications
PubMed (22)
Grebe, T. A., Seltzer, W. K.,  (more...)
Pathogenic
(Mar 13, 2014)
no assertion criteria provided
Method: literature only
Hereditary pancreatitis
Allele origin: germline
GeneReviews
Accession: SCV000153744.2
Submitted: (May 29, 2014)
Evidence details
Pathogenic
(Jun 10, 2016)
no assertion criteria provided
Method: research
Cystic fibrosis
Allele origin: maternal
Division of Human Genetics,Children's Hospital of Philadelphia
Study: CSER-PediSeq
Accession: SCV000536740.1
Submitted: (Jan 23, 2017)
Evidence details
Publications
PubMed (7)
not provided
(-)
no assertion provided
Method: not provided
not provided
Allele origin: germline
SNPedia
Accession: SCV000090450.1
Submitted: (Apr 26, 2011)
Evidence details
not provided
(-)
no assertion provided
Method: phenotyping only
Cystic fibrosis
Allele origin: unknown
GenomeConnect, ClinGen
Accession: SCV000607274.1
Submitted: (Aug 22, 2017)
Evidence details
Comment:
GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical ... (more)

Citations for this variant

Title Author Journal Year Link
First experience in Switzerland in Phe508del homozygous cystic fibrosis patients with end-stage pulmonary disease enrolled in a lumacaftor-ivacaftor therapy trial - preliminary results. Murer C Swiss medical weekly 2018 PMID: 29451946
Effects of Lumacaftor-Ivacaftor Therapy on Cystic Fibrosis Transmembrane Conductance Regulator Function in Phe508del Homozygous Patients with Cystic Fibrosis. Graeber SY American journal of respiratory and critical care medicine 2018 PMID: 29327948
Lumacaftor/ivacaftor in patients with cystic fibrosis and advanced lung disease homozygous for F508del-CFTR. Taylor-Cousar JL Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2018 PMID: 29126871
Tezacaftor-Ivacaftor in Residual-Function Heterozygotes with Cystic Fibrosis. Rowe SM The New England journal of medicine 2017 PMID: 29099333
Efficacy and safety of lumacaftor and ivacaftor in patients aged 6-11 years with cystic fibrosis homozygous for F508del-CFTR: a randomised, placebo-controlled phase 3 trial. Ratjen F The Lancet. Respiratory medicine 2017 PMID: 28606620
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Real-life initiation of lumacaftor/ivacaftor combination in adults with cystic fibrosis homozygous for the Phe508del CFTR mutation and severe lung disease. Hubert D Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2017 PMID: 28325531
Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation. Farrell PM The Journal of pediatrics 2017 PMID: 28129811
Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses. Sosnay PR The Journal of pediatrics 2017 PMID: 28129809
Lumacaftor/Ivacaftor Treatment of Patients with Cystic Fibrosis Heterozygous for F508del-CFTR. Rowe SM Annals of the American Thoracic Society 2017 PMID: 27898234
Lumacaftor/Ivacaftor in Patients Aged 6-11 Years with Cystic Fibrosis and Homozygous for F508del-CFTR. Milla CE American journal of respiratory and critical care medicine 2017 PMID: 27805836
Characterizing responses to CFTR-modulating drugs using rectal organoids derived from subjects with cystic fibrosis. Dekkers JF Science translational medicine 2016 PMID: 27334259
Efficacy and safety of lumacaftor/ivacaftor combination therapy in patients with cystic fibrosis homozygous for Phe508del CFTR by pulmonary function subgroup: a pooled analysis. Elborn JS The Lancet. Respiratory medicine 2016 PMID: 27298017
Mechanistic Approaches to Improve Correction of the Most Common Disease-Causing Mutation in Cystic Fibrosis. Bali V PloS one 2016 PMID: 27214033
Combination therapy with cystic fibrosis transmembrane conductance regulator modulators augment the airway functional microanatomy. Birket SE American journal of physiology. Lung cellular and molecular physiology 2016 PMID: 26968770
Cystic Fibrosis: A Review of Associated Phenotypes, Use of Molecular Diagnostic Approaches, Genetic Characteristics, Progress, and Dilemmas. Brennan ML The Journal of molecular diagnostics : JMD 2016 PMID: 26631874
∆F508 CFTR interactome remodelling promotes rescue of cystic fibrosis. Pankow S Nature 2015 PMID: 26618866
Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR. Wainwright CE The New England journal of medicine 2015 PMID: 25981758
Cystic fibrosis transmembrane conductance regulator (CFTR) potentiators protect G551D but not ΔF508 CFTR from thermal instability. Liu X Biochemistry 2014 PMID: 25148434
A CFTR corrector (lumacaftor) and a CFTR potentiator (ivacaftor) for treatment of patients with cystic fibrosis who have a phe508del CFTR mutation: a phase 2 randomised controlled trial. Boyle MP The Lancet. Respiratory medicine 2014 PMID: 24973281
Pancreatitis Overview LaRusch J - 2014 PMID: 24624459
Association of cystic fibrosis transmembrane-conductance regulator gene mutation with negative outcome of intracytoplasmic sperm injection pregnancy in cases of congenital bilateral absence of vas deferens. Lu S Fertility and sterility 2014 PMID: 24559724
Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. Van Goor F Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2014 PMID: 23891399
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Sosnay PR Nature genetics 2013 PMID: 23974870
A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients. Masson E PloS one 2013 PMID: 23951356
Dynamics intrinsic to cystic fibrosis transmembrane conductance regulator function and stability. Chong PA Cold Spring Harbor perspectives in medicine 2013 PMID: 23457292
A population-based study of autosomal-recessive disease-causing mutations in a founder population. Chong JX American journal of human genetics 2012 PMID: 22981120
Cystic fibrosis transmembrane conductance regulator (CFTR) potentiator VX-770 (ivacaftor) opens the defective channel gate of mutant CFTR in a phosphorylation-dependent but ATP-independent manner. Eckford PD The Journal of biological chemistry 2012 PMID: 22942289
Ivacaftor in subjects with cystic fibrosis who are homozygous for the F508del-CFTR mutation. Flume PA Chest 2012 PMID: 22383668
Ivacaftor potentiation of multiple CFTR channels with gating mutations. Yu H Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2012 PMID: 22293084
Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation. Clancy JP Thorax 2012 PMID: 21825083
Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809. Van Goor F Proceedings of the National Academy of Sciences of the United States of America 2011 PMID: 21976485
Recommendations for the classification of diseases as CFTR-related disorders. Bombieri C Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2011 PMID: 21658649
Probing conformational rescue induced by a chemical corrector of F508del-cystic fibrosis transmembrane conductance regulator (CFTR) mutant. Yu W The Journal of biological chemistry 2011 PMID: 21602569
CFTR allelic heterogeneity in Mexican patients with cystic fibrosis: implications for molecular screening. Chávez-Saldaña M Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion 2010 PMID: 21416780
The primary folding defect and rescue of ΔF508 CFTR emerge during translation of the mutant domain. Hoelen H PloS one 2010 PMID: 21152102
Cell Biology. The proteome in balance. Hutt D Science (New York, N.Y.) 2010 PMID: 20705837
Peripheral protein quality control removes unfolded CFTR from the plasma membrane. Okiyoneda T Science (New York, N.Y.) 2010 PMID: 20595578
Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770. Van Goor F Proceedings of the National Academy of Sciences of the United States of America 2009 PMID: 19846789
Clinical and molecular characterization of S1118F-CFTR. Penmatsa H Pediatric pulmonology 2009 PMID: 19774621
Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. Farrell PM The Journal of pediatrics 2008 PMID: 18639722
Could a defective epithelial sodium channel lead to bronchiectasis. Fajac I Respiratory research 2008 PMID: 18507830
Diminished self-chaperoning activity of the DeltaF508 mutant of CFTR results in protein misfolding. Serohijos AW PLoS computational biology 2008 PMID: 18463704
Liquid movement across the surface epithelium of large airways. Chambers LA Respiratory physiology & neurobiology 2007 PMID: 17692578
Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens. Grangeia A Genetics in medicine : official journal of the American College of Medical Genetics 2007 PMID: 17413420
Potential role for the common cystic fibrosis DeltaF508 mutation in Crohn's disease. Bresso F Inflammatory bowel diseases 2007 PMID: 17206681
Side chain and backbone contributions of Phe508 to CFTR folding. Thibodeau PH Nature structural & molecular biology 2005 PMID: 15619636
Fcgamma receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis. De Rose V European journal of human genetics : EJHG 2005 PMID: 15367919
The necessity of complete CFTR mutational analysis of an infertile couple before in vitro fertilization. Wong LJ Fertility and sterility 2004 PMID: 15482777
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Watson MS Genetics in medicine : official journal of the American College of Medical Genetics 2004 PMID: 15371902
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Watson MS Genetics in medicine : official journal of the American College of Medical Genetics 2004 PMC3110945
Role of Cftr genotype in the response to chronic Pseudomonas aeruginosa lung infection in mice. van Heeckeren AM American journal of physiology. Lung cellular and molecular physiology 2004 PMID: 15246977
Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. Anderson SL Human genetics 2004 PMID: 15221447
Rescuing cystic fibrosis transmembrane conductance regulator (CFTR)-processing mutants by transcomplementation. Cormet-Boyaka E Proceedings of the National Academy of Sciences of the United States of America 2004 PMID: 15141088
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Groman JD American journal of human genetics 2004 PMID: 14685937
The phenotypic consequences of CFTR mutations. Rowntree RK Annals of human genetics 2003 PMID: 12940920
Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations. Wong LJ American journal of medical genetics. Part A 2003 PMID: 12833420
'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations. Noone PG Respiratory research 2001 PMID: 11737931
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Grody WW Genetics in medicine : official journal of the American College of Medical Genetics 2001 PMID: 11280952
Identification of cystic fibrosis mutations in Oman. Frossard PM Clinical genetics 2000 PMID: 10782933
High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes. Casals T Human genetics 1997 PMID: 9439669
delta F508 in cystic fibrosis: willing but not able. Southern KW Archives of disease in childhood 1997 PMID: 9135274
Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population. Russo MP Human mutation 1995 PMID: 7537148
Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis. Rozen R American journal of medical genetics 1992 PMID: 1536179
Mutation analysis of the cystic fibrosis transmembrane regulator gene in Native American populations of the southwest. Grebe TA American journal of human genetics 1992 PMID: 1384321
CFTR! Fuller CM The American journal of physiology 1992 PMID: 1381146
Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive. Denning GM Nature 1992 PMID: 1380673
Cystic fibrosis mutations delta F508 and G542X in Jewish patients. Lerer I Journal of medical genetics 1992 PMID: 1377276
Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin. Casals T American journal of human genetics 1992 PMID: 1370875
A pooling strategy for heterozygote screening of the delta F508 cystic fibrosis mutation. Gille C Human genetics 1991 PMID: 1997384
Genetic epidemiology of cystic fibrosis in Saguenay-Lac-St-Jean (Quebec, Canada). Daigneault J Clinical genetics 1991 PMID: 1756602
Frequency of the phenylalanine deletion (delta F508) in the CF gene of Belgian cystic fibrosis patients. Wauters JG Clinical genetics 1991 PMID: 1673094
Worldwide survey of the delta F508 mutation--report from the cystic fibrosis genetic analysis consortium. - American journal of human genetics 1990 PMID: 2378364
PCR test for cystic fibrosis deletion. Ballabio A Nature 1990 PMID: 2300168
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Kerem BS Proceedings of the National Academy of Sciences of the United States of America 1990 PMID: 2236053
Cystic fibrosis mutations in North American populations of French ancestry: analysis of Quebec French-Canadian and Louisiana Acadian families. Rozen R American journal of human genetics 1990 PMID: 2220803
Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. European Working Group on CF Genetics (EWGCFG). - Human genetics 1990 PMID: 2210767
Identification of the cystic fibrosis gene: genetic analysis. Kerem B Science (New York, N.Y.) 1989 PMID: 2570460
Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Riordan JR Science (New York, N.Y.) 1989 PMID: 2475911
Grebe, T. A., Seltzer, W. K., DeMarchi, J., Silva, D. K., Doane, W. W., Gozal, D., Richter, S. F., Bowman, C. M., Norman, R. A., Rhodes, S. N., Hernried, L. S., Murphy, S., Harwood, I. R., Accurso, F. J., Jain, K. D. Genetic analysis of Hispanic individuals with cystic fibrosis. Am. J. Hum. Genet. 54: 443-446, 1994. - - - -
http://www.cftr2.org/ - - - -
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CFTR - - - -
http://www.ncbi.nlm.nih.gov/sites/GeneTests/review/gene/CFTR - - - -
https://cftr2.org - - - -
https://www.pharmgkb.org/clinicalAnnotation/1447979749 - - - -
https://www.pharmgkb.org/clinicalAnnotation/981755820 - - - -

Record last updated Nov 10, 2019