ClinVar Genomic variation as it relates to human health
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)
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.
Pathogenic(1); Uncertain significance(9); Benign(2); Likely benign(5)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)
Variation ID: 35842 Accession: VCV000035842.47
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 7q31.2 7: 117592588 (GRCh38) [ NCBI UCSC ] 7: 117232642 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Nov 11, 2017 May 12, 2024 Jan 31, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000492.4:c.2421A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000483.3:p.Ile807Met missense NC_000007.14:g.117592588A>G NC_000007.13:g.117232642A>G NG_016465.4:g.131805A>G LRG_663:g.131805A>G LRG_663t1:c.2421A>G LRG_663p1:p.Ile807Met P13569:p.Ile807Met - Protein change
- I807M
- Other names
- -
- Canonical SPDI
- NC_000007.14:117592587:A:G
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
1000 Genomes Project 30x 0.00031
The Genome Aggregation Database (gnomAD) 0.00034
Trans-Omics for Precision Medicine (TOPMed) 0.00043
Exome Aggregation Consortium (ExAC) 0.00072
The Genome Aggregation Database (gnomAD), exomes 0.00077
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
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 |
3704 | 5025 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
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
Help
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
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
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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Conflicting interpretations of pathogenicity (6) |
criteria provided, conflicting classifications
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Jan 31, 2024 | RCV000197986.29 | |
Likely benign (1) |
criteria provided, single submitter
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May 5, 2023 | RCV000313144.19 | |
Uncertain significance (1) |
criteria provided, single submitter
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May 23, 2017 | RCV000515401.10 | |
Conflicting interpretations of pathogenicity (7) |
criteria provided, conflicting classifications
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Nov 9, 2023 | RCV000725433.37 | |
CFTR-related disorder
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Conflicting interpretations of pathogenicity (2) |
criteria provided, conflicting classifications
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Jan 24, 2024 | RCV001009483.16 |
Likely benign (1) |
criteria provided, single submitter
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May 17, 2021 | RCV002257361.8 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
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
Help
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
Help
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 the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Uncertain significance
(May 23, 2017)
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criteria provided, single submitter
Method: clinical testing
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Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV000611383.1
First in ClinVar: Nov 11, 2017 Last updated: Nov 11, 2017 |
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Benign
(Sep 24, 2019)
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criteria provided, single submitter
Method: clinical testing
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Cystic fibrosis
Affected status: unknown
Allele origin:
germline
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Johns Hopkins Genomics, Johns Hopkins University
Accession: SCV000992327.2
First in ClinVar: Sep 11, 2019 Last updated: Mar 07, 2020 |
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Likely benign
(Apr 27, 2017)
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criteria provided, single submitter
Method: clinical testing
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CFTR-Related Disorders
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV001320417.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. (less)
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Likely benign
(May 05, 2023)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000696899.5
First in ClinVar: Mar 17, 2018 Last updated: Jun 24, 2023 |
Comment:
Variant summary: CFTR c.2421A>G (p.Ile807Met) results in a conservative amino acid change located in the CFTR regulator domain (IPR025837) of the encoded protein sequence. Four … (more)
Variant summary: CFTR c.2421A>G (p.Ile807Met) results in a conservative amino acid change located in the CFTR regulator domain (IPR025837) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00078 in 182610 control chromosomes in the gnomAD database, including 1 homozygote. This frequency is not significantly higher than estimated for a pathogenic variant in CFTR causing Chronic Pancreatitis Risk (0.00078 vs 0.0063), allowing no conclusion about variant significance. c.2421A>G, has been reported in the literature in individuals affected with Idiopathic Chronic Pancreatitis (ICP) (Masson_2013) and healthy controls with comparable allele frequencies (LaRusch_2014). Multiple ICP patients reported with this variant also carried another disease variant in either CFTR or the CPANC causative gene SPINK1 (Masson_2013, Pelletier _2010, and Schneider_2011), indicating that the contribution of this particular variant to the etiology of pancreatitis is unlikely. In addition, multiple studies list this variant as neutral variant with no clinical consequence. (Fanen_2014, Castellani_2008). In toto, these data do not allow any conclusion about variant significance in the context of CF, CFTR-RD or chronic pancreatitis. At least two independent publications reporting experimental evidence evaluating an impact on protein function were ascertained in the context of this evaluation. These results showed no damaging effect of this variant on CFTR maturation as well as chloride conductance (example, Vankeerberghen_1998, Raraigh_2018). The following publications have been ascertained in the context of this evaluation (PMID: 28603918, 14998948, 24631642, 18716917, 17003641, 19202204, 25033378, 20722470, 23951356, 25651269, 20460946, 29805046, 20977904, 26708955, 17489851, 9736778, 26277102, 19812525). Fourteen clinical diagnostic laboratories and one database (CFTR-France) have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Multiple laboratories reported the variant with conflicting assessments ranging from benign/likely benign (n=6), VUS (n=8). CFTR-France database reports a pathogenic classification for a phenotype of CFTR-related disorders due to a report of its occurrence as a complex variant (I807M;Q1352H) in three patients with Congenital bilateral absence of vas deferens (CBAVD) who carried p.F508del on the other allele and in one asymptomatic compound heterozygote (ASCH) (with p.F508del), for a total of 4 individuals without ascertained familial segregation (Claustres_2017). However, these findings cannot be translated into evidence supporting the pathogenicity of this variant in isolation. Several submitters also cite overlapping evidence utilized in the context of this evaluation. Based on the evidence outlined above, the variant in isolation was classified as likely benign. (less)
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Uncertain significance
(Aug 13, 2019)
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criteria provided, single submitter
Method: clinical testing
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Not provided
Affected status: unknown
Allele origin:
germline
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Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001714845.1
First in ClinVar: Jun 15, 2021 Last updated: Jun 15, 2021 |
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Likely benign
(Nov 10, 2022)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV002047104.2
First in ClinVar: Jan 03, 2022 Last updated: Jan 06, 2024 |
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Uncertain significance
(Apr 06, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV004235038.1
First in ClinVar: Feb 04, 2024 Last updated: Feb 04, 2024 |
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Pathogenic
(Jan 24, 2024)
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criteria provided, single submitter
Method: curation
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CFTR-related disorders
Affected status: no, yes
Allele origin:
germline
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CFTR-France
Accession: SCV001169578.2
First in ClinVar: Mar 16, 2020 Last updated: Feb 14, 2024 |
Observation 1:
Number of individuals with the variant: 1
Sex: male
Observation 2:
Number of individuals with the variant: 1
Sex: male
Observation 3:
Number of individuals with the variant: 1
Sex: male
Observation 4:
Number of individuals with the variant: 1
Sex: female
Observation 5:
Number of individuals with the variant: 1
Sex: male
Observation 6:
Number of individuals with the variant: 1
Sex: female
Observation 7:
Number of individuals with the variant: 1
Sex: female
Observation 8:
Number of individuals with the variant: 1
Sex: female
Observation 9:
Number of individuals with the variant: 1
Sex: female
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Benign
(Jan 31, 2024)
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criteria provided, single submitter
Method: clinical testing
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Cystic fibrosis
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000254590.10
First in ClinVar: Oct 11, 2015 Last updated: Feb 20, 2024 |
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Uncertain significance
(Nov 09, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000883597.5
First in ClinVar: Feb 17, 2019 Last updated: Feb 20, 2024 |
Comment:
The CFTR c.2421A>G; p.Ile807Met variant (rs1800103), is reported in the literature in the compound heterozygous state or in the heterozygous state with an unknown second … (more)
The CFTR c.2421A>G; p.Ile807Met variant (rs1800103), is reported in the literature in the compound heterozygous state or in the heterozygous state with an unknown second allele in individuals affected with chronic pancreatitis (Danziger 2004, Keiles 2006, Masson 2013), cystic fibrosis (Behar 2017, Kolesar 2008, Schrijver 2016), and congenital bilateral absence of vas deferens (Vankeerberghen 1998). However, this variant has also been observed in equal numbers of control samples (LaRusch 2014, Makrythanasis 2010, Tzetis 2007). The variant is also reported in ClinVar (Variation ID: 35842). This variant is found in the South Asian population with an overall allele frequency of 0.52% (77/14800 alleles, including a single homozygote) in the Genome Aggregation Database. The isoleucine at codon 807 is highly conserved, and computational analyses predict that this variant is deleterious (REVEL: 0.738). However, functional studies show no defects in protein maturation or chloride channel activity (Raraigh 2018, Vankeerberghen 1998). Due to conflicting information, the clinical significance of the p.Ile807Met variant is uncertain at this time. References: Behar DM et al. Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening. Mol Genet Genomic Med. 2017 Feb 19;5(3):223-236. PMID: 28546993. Danziger KL et al. Improved detection of cystic fibrosis mutations in infertility patients with DNA sequence analysis. Hum Reprod. 2004 Mar;19(3):540-6. PMID: 14998948. Keiles S et al. Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis. Pancreas. 2006 Oct;33(3):221-7. PMID: 17003641. Kolesar P et al. Mutation analysis of the CFTR gene in Slovak cystic fibrosis patients by DHPLC and subsequent sequencing: identification of four novel mutations. Gen Physiol Biophys. 2008 Dec;27(4):299-305. PMID: 19202204. LaRusch J et al. Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis. PLoS Genet. 2014 Jul 17;10(7):e1004376. PMID: 25033378. Makrythanasis P et al. Cystic fibrosis conductance regulator, tumor necrosis factor, interferon alpha-10, interferon alpha-17, and interferon gamma genotyping as potential risk markers in pulmonary sarcoidosis pathogenesis in Greek patients. Genet Test Mol Biomarkers. 2010 Aug;14(4):577-84. PMID: 20722470. Masson E et al. 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. PLoS One. 2013 Aug 8;8(8):e73522. PMID: 23951356. Raraigh KS et al. Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity. Am J Hum Genet. 2018 Jun 7;102(6):1062-1077. PMID: 29805046. Schrijver I et al. The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing. J Mol Diagn. 2016 Jan;18(1):39-50. PMID: 26708955. Tzetis M et al. Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis. Clin Genet. 2007 May;71(5):451-7. PMID: 17489851. Vankeerberghen A et al. Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator. Hum Mol Genet. 1998 Oct;7(11):1761-9. PMID: 9736778. (less)
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Uncertain significance
(Apr 05, 2023)
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criteria provided, single submitter
Method: clinical testing
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Cystic fibrosis
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV001176331.5
First in ClinVar: Mar 16, 2020 Last updated: May 01, 2024 |
Comment:
The p.I807M variant (also known as c.2421A>G), located in coding exon 14 of the CFTR gene, results from an A to G substitution at nucleotide … (more)
The p.I807M variant (also known as c.2421A>G), located in coding exon 14 of the CFTR gene, results from an A to G substitution at nucleotide position 2421. The isoleucine at codon 807 is replaced by methionine, an amino acid with highly similar properties. This variant was found to co-occur with a pathogenic mutation in CFTR and SPINK1 in an individual presenting with chronic pancreatitis (Schneider A et al. Gastroenterology, 2011 Jan;140:162-71). In a cohort of 253 French individuals with idiopathic chronic pancreatitis, two were identified as heterozygous for p.I807M; one was also heterozygous for p.R117H, phase uncertain (Masson E et al. PLoS ONE, 2013 Aug;8:e73522). Another study observed this variant in individuals with pancreatitis and healthy controls at the same frequency (LaRusch J et al. PLoS Genet., 2014 Jul;10:e1004376). Functional data demonstrated this variant displayed both maturation of the protein and chloride channel activity similar to that of wild-type protein (Vankeerberghen A et al. Hum. Mol. Genet., 1998 Oct;7:1761-9; Raraigh KS et al. Am. J. Hum. Genet., 2018 Jun;102:1062-1077), although bicarbonate permeability and conductance, which are more relevant in the development of pancreatitis, were not assessed. Based on data from gnomAD, the G allele has an overall frequency of approximately 0.07% (148/210958) total alleles studied. The highest observed frequency was 0.52% (77/14800) of South Asian alleles. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on available evidence to date, the clinical significance of this alteration remains unclear. (less)
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Uncertain significance
(Nov 08, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000336902.4
First in ClinVar: Dec 06, 2016 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 7
Sex: mixed
|
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Uncertain significance
(May 18, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Cystic fibrosis
Affected status: no
Allele origin:
germline
|
Pars Genome Lab
Accession: SCV001736835.1
First in ClinVar: Jun 19, 2021 Last updated: Jun 19, 2021 |
Sex: mixed
|
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Uncertain significance
(Jul 22, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Cystic fibrosis
Affected status: no
Allele origin:
germline
|
Genome-Nilou Lab
Accession: SCV001822107.1
First in ClinVar: Sep 08, 2021 Last updated: Sep 08, 2021 |
Sex: mixed
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Likely benign
(Jun 27, 2018)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV001822358.1
First in ClinVar: Sep 08, 2021 Last updated: Sep 08, 2021 |
Comment:
This variant is associated with the following publications: (PMID: 29805046, 9736778, 24631642, 28194692, 20460946, 26708955, 17489851, 14998948, 17003641, 20977904, 19202204, 19812525, 25033378, 20722470, 23951356)
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Likely benign
(May 17, 2021)
|
criteria provided, single submitter
Method: curation
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Hereditary pancreatitis
Affected status: unknown
Allele origin:
germline
|
Sema4, Sema4
Accession: SCV002529693.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022 |
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Uncertain significance
(Nov 01, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV004158955.5
First in ClinVar: Nov 20, 2023 Last updated: May 12, 2024 |
Number of individuals with the variant: 1
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Likely benign
(Aug 05, 2019)
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no assertion criteria provided
Method: clinical testing
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Cystic Fibrosis
Affected status: unknown
Allele origin:
germline
|
Natera, Inc.
Accession: SCV001455989.1
First in ClinVar: Jan 01, 2021 Last updated: Jan 01, 2021 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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C FTR variants are associated with chronic bronchitis in smokers. | Saferali A | The European respiratory journal | 2022 | PMID: 34996830 |
Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India. | Narang A | Human mutation | 2020 | PMID: 32906206 |
Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity. | Raraigh KS | American journal of human genetics | 2018 | PMID: 29805046 |
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 |
Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening. | Behar DM | Molecular genetics & genomic medicine | 2017 | PMID: 28546993 |
Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations. | Giefer MJ | The Journal of pediatrics | 2017 | PMID: 28502372 |
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 CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing. | Schrijver I | The Journal of molecular diagnostics : JMD | 2016 | PMID: 26708955 |
Novel mutations and polymorphisms in the CFTR gene associated with three subtypes of congenital absence of vas deferens. | Yang X | Fertility and sterility | 2015 | PMID: 26277102 |
Elevated sweat chloride levels due to arsenic toxicity. | Mazumdar M | The New England journal of medicine | 2015 | PMID: 25651269 |
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 |
Genetics of cystic fibrosis: CFTR mutation classifications toward genotype-based CF therapies. | Fanen P | The international journal of biochemistry & cell biology | 2014 | PMID: 24631642 |
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 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 |
Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes. | Wang LL | Basic & clinical pharmacology & toxicology | 2011 | PMID: 20849526 |
Cystic fibrosis conductance regulator, tumor necrosis factor, interferon alpha-10, interferon alpha-17, and interferon gamma genotyping as potential risk markers in pulmonary sarcoidosis pathogenesis in Greek patients. | Makrythanasis P | Genetic testing and molecular biomarkers | 2010 | PMID: 20722470 |
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 |
Independent contribution of common CFTR variants to chronic pancreatitis. | de Cid R | Pancreas | 2010 | PMID: 19812525 |
Mutation analysis of the CFTR gene in Slovak cystic fibrosis patients by DHPLC and subsequent sequencing: identification of four novel mutations. | Kolesár P | General physiology and biophysics | 2008 | PMID: 19202204 |
A novel computational and structural analysis of nsSNPs in CFTR gene. | George Priya Doss C | Genomic medicine | 2008 | PMID: 18716917 |
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 |
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 |
Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis. | Keiles S | Pancreas | 2006 | PMID: 17003641 |
Improved detection of cystic fibrosis mutations in infertility patients with DNA sequence analysis. | Danziger KL | Human reproduction (Oxford, England) | 2004 | PMID: 14998948 |
Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator. | Vankeerberghen A | Human molecular genetics | 1998 | PMID: 9736778 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CFTR | - | - | - | - |
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Text-mined citations for rs1800103 ...
HelpRecord last updated Jun 10, 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.