ClinVar Genomic variation as it relates to human health
NM_000492.3(CFTR):c.[1327G>T;1727G>C;2002C>T]
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
NM_000492.3(CFTR):c.[1327G>T;1727G>C;2002C>T]
- Other names
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- Functional consequence
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- Links
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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CFTR | - | - |
GRCh38 GRCh37 |
3689 | 5008 | |
CFTR-AS1 | - | - | - | GRCh38 | - | 490 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
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The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (1) |
criteria provided, single submitter
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Feb 25, 2020 | RCV001089864.10 |
Submissions - Germline
Classification
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The submitted germline classification for each SCV record. (Last evaluated) |
Review status
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Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
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The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
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The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
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This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Feb 25, 2020)
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criteria provided, single submitter
Method: clinical testing
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Cystic fibrosis
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
unknown
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001162789.1
First in ClinVar: May 12, 2020 Last updated: May 12, 2020 |
Comment:
CFTR c.[1327G>T;1727G>C;2002C>T] (p.[Asp443Tyr;Gly576Ala;Arg668Cys]) variant is a complex allele and involves the alteration of multiple nucleotides. The allele frequency of this complex variant could not be … (more)
CFTR c.[1327G>T;1727G>C;2002C>T] (p.[Asp443Tyr;Gly576Ala;Arg668Cys]) variant is a complex allele and involves the alteration of multiple nucleotides. The allele frequency of this complex variant could not be determined from population databases because the individual variants of the complex have variable frequencies and the exact number of alleles representing a combination of the three in cis is unknown. However, based on the frequency of the least prevalent allele, namely c.1327G>T, it can be estimated that the complex variant allele will be found at a frequency not to exceed 0.00026 in 242986 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in CFTR causing Classic or Non-Classic Cystic Fibrosis, allowing no conclusion about variant significance. Of note, c.1327G>T (p.Asp443Tyr) in isolation has been classified as pathogenic for CFTR-RD. The complex allele, c.[1327G>T;1727G>C;2002C>T] has been reported in the literature in multiple individuals affected with CBAVD and CFTR-RD (example, Steiner_2011, PMID 21520337, El-Seedy_2012, PMID 22678879). This complex allele has been previously reported as one of the common complex variants in patients with CFTR-RD in compound heterozygous genotypes with other known or potentially pathogenic CFTR variants. Furthermore, this variant combination is reported as one of the most common complex alleles found in CBAVD patients (Bombieri 2011, PMID 21658649). At-least one publication reports experimental evidence evaluating an impact on protein function of these variants in isolation as well as part of the complex haplotype. In this study, the authors concluded that the combination of p.Gly576Ala and p.Arg668Cys affecting chloride channel activity coupled with p.Asp443Tyr effecting protein maturation would account for the pathogenicity of the overall haplotype (El-Seedy_2012). These results are consistent with mild functional effect attributed to the complex allele (El-Seedy 2012). In contrast however, c.1727G>C and c.2002C>T in isolation have been reported as non-CF causing in isolation based on a large study evaluating the functional consequences of CFTR variants (Sosnay_2013, PMID 23974870). No clinical diagnostic laboratories have submitted clinical-significance assessments for this complex variant combination to ClinVar after 2014. Based on the evidence outlined above, the complex allele was classified as pathogenic for CFTR-related disorders. (less)
Sex: female
Comment on evidence:
Variant was classified in routine clinical testing. literature only.
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Germline Functional Evidence
Functional
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The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence |
Method
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A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter. |
Result
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A brief description of the result of this method for this variant. |
Submitter
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The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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probably has functional consequence
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001162789.1
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Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis. | Almes M | Diagnostics (Basel, Switzerland) | 2022 | PMID: 35626323 |
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis. | Almes M | Diagnostics (Basel, Switzerland) | 2022 | PMID: 35626323 |
Author Correction: Spatial covariance analysis reveals the residue-by-residue thermodynamic contribution of variation to the CFTR fold. | Anglès F | Communications biology | 2022 | PMID: 35585144 |
Caution advised in the use of CFTR modulator treatment for individuals harboring specific CFTR variants. | Raraigh KS | Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society | 2022 | PMID: 35527187 |
Spatial covariance analysis reveals the residue-by-residue thermodynamic contribution of variation to the CFTR fold. | Anglès F | Communications biology | 2022 | PMID: 35418593 |
C FTR variants are associated with chronic bronchitis in smokers. | Saferali A | The European respiratory journal | 2022 | PMID: 34996830 |
C FTR variants are associated with chronic bronchitis in smokers. | Saferali A | The European respiratory journal | 2022 | PMID: 34996830 |
Idiopathic chronic pancreatitis treated with ivacaftor in a CFTR carrier with methylmalonic acidemia. | Tang TY | Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society | 2022 | PMID: 34974990 |
CFTR mutational screening by next-generation sequencing reveals novel variants and a high carrier rate in a Middle Eastern population. | Farra C | Annals of human genetics | 2022 | PMID: 34888852 |
CFTR gene mutation spectrum among 735 Iranian patients with cystic fibrosis: A comprehensive systematic review. | Alibakhshi R | Pediatric pulmonology | 2021 | PMID: 34525262 |
The genetic structure of the Turkish population reveals high levels of variation and admixture. | Kars ME | Proceedings of the National Academy of Sciences of the United States of America | 2021 | PMID: 34426522 |
Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed? | Mekki C | Genes | 2021 | PMID: 33946859 |
Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort. | Cambraia A | Disease markers | 2021 | PMID: 33613790 |
Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey. | Bozdogan ST | Genes | 2021 | PMID: 33572515 |
Andrological findings in infertile men with two (biallelic) CFTR mutations: results of a multicentre study in Germany and Austria comprising 71 patients. | Rudnik-Schöneborn S | Human reproduction (Oxford, England) | 2021 | PMID: 33374015 |
Exon identity influences splicing induced by exonic variants and in silico prediction efficacy. | Martin N | Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society | 2021 | PMID: 33341408 |
Extensive CFTR sequencing through NGS in Brazilian individuals with cystic fibrosis: unravelling regional discrepancies in the country. | da Silva Filho LVRF | Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society | 2021 | PMID: 32819855 |
Cystic fibrosis transmembrane conductance regulator-related male infertility: Relevance of genetic testing & counselling in Indian population. | Gaikwad A | The Indian journal of medical research | 2020 | PMID: 34145097 |
Extensive CFTR Gene Analysis Revealed a Higher Occurrence of Cystic Fibrosis Transmembrane Regulator-Related Disorders (CFTR-RD) among CF Carriers. | Esposito MV | Journal of clinical medicine | 2020 | PMID: 33260873 |
Extensive CFTR Gene Analysis Revealed a Higher Occurrence of Cystic Fibrosis Transmembrane Regulator-Related Disorders (CFTR-RD) among CF Carriers. | Esposito MV | Journal of clinical medicine | 2020 | PMID: 33260873 |
The histopathology of SPINK1-associated chronic pancreatitis. | Jones TE | Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] | 2020 | PMID: 33097431 |
Intestinal current measurement and nasal potential difference to make a diagnosis of cases with inconclusive CFTR genetics and sweat test. | Minso R | BMJ open respiratory research | 2020 | PMID: 33020115 |
Cystic Fibrosis-Screening Positive Inconclusive Diagnosis: Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders. | Castaldo A | Diagnostics (Basel, Switzerland) | 2020 | PMID: 32784480 |
Carriers of cystic fibrosis among sperm donors: complete CFTR gene analysis versus CFTR genotyping. | Molina M | Fertility and sterility | 2020 | PMID: 32773111 |
Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges. | Bienvenu T | Genes | 2020 | PMID: 32512765 |
The true panel of cystic fibrosis mutations in the Sicilian population. | Chamayou S | BMC medical genetics | 2020 | PMID: 32357917 |
Variant classifications, databases and genotype-phenotype correlations. | Raynal C | Archives de pediatrie : organe officiel de la Societe francaise de pediatrie | 2020 | PMID: 32172930 |
Pitfalls in the interpretation of CFTR variants in the context of incidental findings. | Boussaroque A | Human mutation | 2019 | PMID: 31350925 |
Severe pulmonary disease in an adult primary ciliary dyskinesia population in Brazil. | Olm MAK | Scientific reports | 2019 | PMID: 31213628 |
Cystic fibrosis screen positive inconclusive diagnosis (CFSPID): Experience in Tuscany, Italy. | Terlizzi V | Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society | 2019 | PMID: 31005549 |
Chronic Bacterial Infection Prevalence, Risk Factors, and Characteristics: A Bronchiectasis Population-Based Prospective Study. | Amorim A | Journal of clinical medicine | 2019 | PMID: 30845638 |
Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity. | Raraigh KS | American journal of human genetics | 2018 | PMID: 29805046 |
Spectrum of CFTR gene sequence variants in a northern Portugal population. | Grangeia A | Pulmonology | 2018 | PMID: 29589582 |
Spectrum of CFTR gene sequence variants in a northern Portugal population. | Grangeia A | Pulmonology | 2018 | PMID: 29589582 |
Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis. | Ivanov M | BMC medical genomics | 2018 | PMID: 29504914 |
Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia. | Oud MS | Human mutation | 2017 | PMID: 28801929 |
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants. | Claustres M | Human mutation | 2017 | PMID: 28603918 |
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants. | Claustres M | Human mutation | 2017 | PMID: 28603918 |
Role of CFTR mutation analysis in the diagnostic algorithm for cystic fibrosis. | Ratkiewicz M | World journal of pediatrics : WJP | 2017 | PMID: 28194692 |
Role of CFTR mutation analysis in the diagnostic algorithm for cystic fibrosis. | Ratkiewicz M | World journal of pediatrics : WJP | 2017 | PMID: 28194692 |
The spectrum of renal involvement in male patients with infertility related to excretory-system abnormalities: phenotypes, genotypes, and genetic counseling. | Mieusset R | Journal of nephrology | 2017 | PMID: 26946416 |
Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis. | Sofia VM | Molecular medicine (Cambridge, Mass.) | 2016 | PMID: 27264265 |
NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine. | Abulí A | Human mutation | 2016 | PMID: 26990548 |
NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine. | Abulí A | Human mutation | 2016 | PMID: 26990548 |
Identification and frequencies of cystic fibrosis mutations in central Argentina. | Pepermans X | Clinical biochemistry | 2016 | PMID: 26500004 |
The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus. | Girardet A | European journal of human genetics : EJHG | 2016 | PMID: 26014425 |
Newborn Screening for Cystic Fibrosis in California. | Kharrazi M | Pediatrics | 2015 | PMID: 26574590 |
A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis. | Lucarelli M | Molecular medicine (Cambridge, Mass.) | 2015 | PMID: 25910067 |
Genotypes and phenotypes in cystic fibrosis and cystic fibrosis transmembrane regulator-related disorders. | Bombieri C | Seminars in respiratory and critical care medicine | 2015 | PMID: 25826586 |
Benign outcome among positive cystic fibrosis newborn screen children with non-CF-causing variants. | Salinas DB | Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society | 2015 | PMID: 25824995 |
Benign outcome among positive cystic fibrosis newborn screen children with non-CF-causing variants. | Salinas DB | Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society | 2015 | PMID: 25824995 |
Should diffuse bronchiectasis still be considered a CFTR-related disorder? | Bergougnoux A | Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society | 2015 | PMID: 25797027 |
Should diffuse bronchiectasis still be considered a CFTR-related disorder? | Bergougnoux A | Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society | 2015 | PMID: 25797027 |
Missense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity. | Masica DL | Human molecular genetics | 2015 | PMID: 25489051 |
Exercise intolerance, malnutrition, abnormal sweat chloride levels, and two CFTR mutations: is it cystic fibrosis? | Com G | Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners | 2015 | PMID: 25060775 |
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. | Fogel BL | JAMA neurology | 2014 | PMID: 25133958 |
Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis. | LaRusch J | PLoS genetics | 2014 | PMID: 25033378 |
CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients. | Ziętkiewicz E | PloS one | 2014 | PMID: 24586523 |
CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients. | Ziętkiewicz E | PloS one | 2014 | PMID: 24586523 |
Neonates with cystic fibrosis have a reduced nasal liquid pH; a small pilot study. | Abou Alaiwa MH | Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society | 2014 | PMID: 24418186 |
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 |
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. | Sosnay PR | Nature genetics | 2013 | PMID: 23974870 |
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 |
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 |
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 |
Combined computational-experimental analyses of CFTR exon strength uncover predictability of exon-skipping level. | Aissat A | Human mutation | 2013 | PMID: 23420618 |
CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated? | Rosendahl J | Gut | 2013 | PMID: 22427236 |
CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes. | El-Seedy A | Human mutation | 2012 | PMID: 22678879 |
CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes. | El-Seedy A | Human mutation | 2012 | PMID: 22678879 |
CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes. | El-Seedy A | Human mutation | 2012 | PMID: 22678879 |
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 |
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens. | Steiner B | Human mutation | 2011 | PMID: 21520337 |
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens. | Steiner B | Human mutation | 2011 | PMID: 21520337 |
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens. | Steiner B | Human mutation | 2011 | PMID: 21520337 |
Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy. | de Becdelièvre A | Human genetics | 2011 | PMID: 21184098 |
Combined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosis. | Schneider A | Gastroenterology | 2011 | PMID: 20977904 |
Combined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosis. | Schneider A | Gastroenterology | 2011 | PMID: 20977904 |
ABPA in adulthood: a CFTR-related disorder. | Lebecque P | Thorax | 2011 | PMID: 20837875 |
A new complex allele of the CFTR gene partially explains the variable phenotype of the L997F mutation. | Lucarelli M | Genetics in medicine : official journal of the American College of Medical Genetics | 2010 | PMID: 20706124 |
Clinical phenotype and genotype of children with borderline sweat test and abnormal nasal epithelial chloride transport. | Sermet-Gaudelus I | American journal of respiratory and critical care medicine | 2010 | PMID: 20538955 |
CFTR gene mutation in patients with apparently idiopathic pancreatitis: lack of phenotype-genotype correlation. | Pelletier AL | Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] | 2010 | PMID: 20460946 |
Functional evaluation of paraplegin mutations by a yeast complementation assay. | Bonn F | Human mutation | 2010 | PMID: 20186691 |
Cystic fibrosis transmembrane conductance regulator channel dysfunction in non-cystic fibrosis bronchiectasis. | Bienvenu T | American journal of respiratory and critical care medicine | 2010 | PMID: 20167849 |
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene? | Dorfman R | Clinical genetics | 2010 | PMID: 20059485 |
Functional properties and evolutionary splicing constraints on a composite exonic regulatory element of splicing in CFTR exon 12. | Haque A | Nucleic acids research | 2010 | PMID: 19910374 |
Independent contribution of common CFTR variants to chronic pancreatitis. | de Cid R | Pancreas | 2010 | PMID: 19812525 |
Independent contribution of common CFTR variants to chronic pancreatitis. | de Cid R | Pancreas | 2010 | PMID: 19812525 |
Independent contribution of common CFTR variants to chronic pancreatitis. | de Cid R | Pancreas | 2010 | PMID: 19812525 |
Cystic fibrosis transmembrane conductance regulator mutations in azoospermic and oligospermic men and their partners. | Gallati S | Reproductive biomedicine online | 2009 | PMID: 20021716 |
Cystic fibrosis transmembrane conductance regulator mutations in azoospermic and oligospermic men and their partners. | Gallati S | Reproductive biomedicine online | 2009 | PMID: 20021716 |
Influence of the duplication of CFTR exon 9 and its flanking sequences on diagnosis of cystic fibrosis mutations. | El-Seedy A | The Journal of molecular diagnostics : JMD | 2009 | PMID: 19710401 |
Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships. | Krasnov KV | Human mutation | 2008 | PMID: 18951463 |
A novel computational and structural analysis of nsSNPs in CFTR gene. | George Priya Doss C | Genomic medicine | 2008 | PMID: 18716917 |
Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. | Audrezet MP | The Journal of molecular diagnostics : JMD | 2008 | PMID: 18687795 |
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. | Castellani C | Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society | 2008 | PMID: 18456578 |
Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations. | Alibakhshi R | Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society | 2008 | PMID: 17662673 |
Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis. | Tzetis M | Clinical genetics | 2007 | PMID: 17489851 |
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 |
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 |
Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry. | Alonso MJ | Annals of human genetics | 2007 | PMID: 17331079 |
Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. | Ratbi I | Human reproduction (Oxford, England) | 2007 | PMID: 17329263 |
Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. | Ratbi I | Human reproduction (Oxford, England) | 2007 | PMID: 17329263 |
Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. | Ratbi I | Human reproduction (Oxford, England) | 2007 | PMID: 17329263 |
Prospective analysis of cystic fibrosis transmembrane regulator mutations in adults with bronchiectasis or pulmonary nontuberculous mycobacterial infection. | Ziedalski TM | Chest | 2006 | PMID: 17035430 |
Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples. | McGinniss MJ | Human genetics | 2005 | PMID: 16189704 |
Molecular evaluation of CFTR sequence variants in male infertility of testicular origin. | Larriba S | International journal of andrology | 2005 | PMID: 16128988 |
Gender-sensitive association of CFTR gene mutations and 5T allele emerging from a large survey on infertility. | Morea A | Molecular human reproduction | 2005 | PMID: 16126774 |
Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations. | Schrijver I | The Journal of molecular diagnostics : JMD | 2005 | PMID: 16049310 |
Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls. | Weiss FU | Gut | 2005 | PMID: 15987793 |
Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum. | Schrijver I | The Journal of molecular diagnostics : JMD | 2005 | PMID: 15858154 |
Molecular pathology of the CFTR locus in male infertility. | Claustres M | Reproductive biomedicine online | 2005 | PMID: 15705292 |
A large-scale study of the random variability of a coding sequence: a study on the CFTR gene. | Modiano G | European journal of human genetics : EJHG | 2005 | PMID: 15536480 |
High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France. | des Georges M | Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society | 2004 | PMID: 15698946 |
Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis. | Niel F | Journal of medical genetics | 2004 | PMID: 15520400 |
Bronchiectasis in adult patients: an expression of heterozygosity for CFTR gene mutations? | Casals T | Clinical genetics | 2004 | PMID: 15151509 |
Atypical sinusitis in adults must lead to looking for cystic fibrosis and primary ciliary dyskinesia. | Coste A | The Laryngoscope | 2004 | PMID: 15126740 |
The phenotypic consequences of CFTR mutations. | Rowntree RK | Annals of human genetics | 2003 | PMID: 12940920 |
The phenotypic consequences of CFTR mutations. | Rowntree RK | Annals of human genetics | 2003 | PMID: 12940920 |
Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9. | Pagani F | The Journal of biological chemistry | 2003 | PMID: 12732620 |
New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12. | Pagani F | Human molecular genetics | 2003 | PMID: 12719375 |
New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12. | Pagani F | Human molecular genetics | 2003 | PMID: 12719375 |
Cystic fibrosis transmembrane conductance regulator (CFTR) gene defects in patients with primary sclerosing cholangitis. | Girodon E | Journal of hepatology | 2002 | PMID: 12127423 |
Prenatal detection of cystic fibrosis by ultrasonography: a retrospective study of more than 346 000 pregnancies. | Scotet V | Journal of medical genetics | 2002 | PMID: 12070257 |
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. | Claustres M | Human mutation | 2000 | PMID: 10923036 |
Fetal bowel hyperechogenicity may indicate mild atypical cystic fibrosis: a case associated with a complex CFTR allele. | Abramowicz MJ | Journal of medical genetics | 2000 | PMID: 10922395 |
Fetal bowel hyperechogenicity may indicate mild atypical cystic fibrosis: a case associated with a complex CFTR allele. | Abramowicz MJ | Journal of medical genetics | 2000 | PMID: 10922395 |
Histological and genetic analysis and risk assessment for chromosomal aberration after ICSI for patients presenting with CBAVD. | Viville S | Human reproduction (Oxford, England) | 2000 | PMID: 10875876 |
Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens. | Casals T | Human reproduction (Oxford, England) | 2000 | PMID: 10875853 |
Mutational analysis of 30 Slovenian cystic fibrosis patients compared to known Slovenian and European CF mutation spectra. | Vouk K | Pflugers Archiv : European journal of physiology | 2000 | PMID: 10653145 |
Study of mutant and polyvariant mutant CFTR genes in patients with congenital absence of the vas deferens. | Ravnik-Glavac M | Pflugers Archiv : European journal of physiology | 2000 | PMID: 10653141 |
Complete mutational screening of the cystic fibrosis transmembrane conductance regulator gene: cystic fibrosis mutations are not involved in healthy men with reduced sperm quality. | Pallares-Ruiz N | Human reproduction (Oxford, England) | 1999 | PMID: 10601093 |
Increased frequency of cystic fibrosis deltaF508 mutation in bronchiectasis associated with rheumatoid arthritis. | Puéchal X | The European respiratory journal | 1999 | PMID: 10445602 |
Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutatations. Mutations in brief no. 138. Online. | de Meeus A | Human mutation | 1998 | PMID: 10200050 |
Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease. | Bombieri C | Human genetics | 1998 | PMID: 9921909 |
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. | Dörk T | Human genetics | 1997 | PMID: 9272157 |
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. | Dörk T | Human genetics | 1997 | PMID: 9272157 |
Molecular diagnosis of congenital bilateral absence of the vas deferens: analyses of the CFTR gene in 64 French patients. | Bienvenu T | Annales de genetique | 1997 | PMID: 9150843 |
CFTR gene variant IVS8-5T in disseminated bronchiectasis. | Pignatti PF | American journal of human genetics | 1996 | PMID: 8644755 |
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. | Chillón M | The New England journal of medicine | 1995 | PMID: 7739684 |
Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis. | Pignatti PF | Human molecular genetics | 1995 | PMID: 7543317 |
Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. | Mercier B | American journal of human genetics | 1995 | PMID: 7529962 |
Severity of disease in cystic fibrosis. | Dörk T | Lancet (London, England) | 1995 | PMID: 7475569 |
Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. | Anguiano A | JAMA | 1992 | PMID: 1545465 |
Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions. | Fanen P | Genomics | 1992 | PMID: 1379210 |
Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions. | Fanen P | Genomics | 1992 | PMID: 1379210 |
Migraine headache--a long-term approach. | Shute WB | Zentralblatt fur Gynakologie | 1990 | PMID: 2267887 |
http://genet.sickkids.on.ca/cftr/app | - | - | - | - |
http://www.cftr2.org/ | - | - | - | - |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CFTR | - | - | - | - |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CFTR | - | - | - | - |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CFTR | - | - | - | - |
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Text-mined citations for this variant ...
HelpRecord last updated May 01, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.