dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs113993960
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr7:117559591-117559594 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- delCTT / dupCTT
- Variation Type
- Indel Insertion and Deletion
- Frequency
-
delCTT=0.007851 (2078/264690, TOPMED)delCTT=0.007068 (1776/251256, GnomAD_exome)delCTT=0.008062 (1130/140170, GnomAD) (+ 8 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
-
CFTR : Inframe DeletionCFTR-AS1 : Intron Variant
- Publications
- 52 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20231103111315
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 92920 | TCTT=0.99688 | T=0.00312, TCTTCTT=0.00000 |
| European | Sub | 79898 | TCTT=0.99685 | T=0.00315, TCTTCTT=0.00000 |
| African | Sub | 4292 | TCTT=0.9986 | T=0.0014, TCTTCTT=0.0000 |
| African Others | Sub | 174 | TCTT=1.000 | T=0.000, TCTTCTT=0.000 |
| African American | Sub | 4118 | TCTT=0.9985 | T=0.0015, TCTTCTT=0.0000 |
| Asian | Sub | 3328 | TCTT=1.0000 | T=0.0000, TCTTCTT=0.0000 |
| East Asian | Sub | 2672 | TCTT=1.0000 | T=0.0000, TCTTCTT=0.0000 |
| Other Asian | Sub | 656 | TCTT=1.000 | T=0.000, TCTTCTT=0.000 |
| Latin American 1 | Sub | 436 | TCTT=0.995 | T=0.005, TCTTCTT=0.000 |
| Latin American 2 | Sub | 928 | TCTT=0.998 | T=0.002, TCTTCTT=0.000 |
| South Asian | Sub | 274 | TCTT=1.000 | T=0.000, TCTTCTT=0.000 |
| Other | Sub | 3764 | TCTT=0.9926 | T=0.0074, TCTTCTT=0.0000 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | TCTT=0.992149 | delCTT=0.007851 |
| gnomAD - Exomes | Global | Study-wide | 251256 | TCTT=0.992932 | delCTT=0.007068 |
| gnomAD - Exomes | European | Sub | 135226 | TCTT=0.989336 | delCTT=0.010664 |
| gnomAD - Exomes | Asian | Sub | 49000 | TCTT=0.99876 | delCTT=0.00124 |
| gnomAD - Exomes | American | Sub | 34578 | TCTT=0.99633 | delCTT=0.00367 |
| gnomAD - Exomes | African | Sub | 16248 | TCTT=0.99705 | delCTT=0.00295 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10078 | TCTT=0.99444 | delCTT=0.00556 |
| gnomAD - Exomes | Other | Sub | 6126 | TCTT=0.9931 | delCTT=0.0069 |
| gnomAD - Genomes | Global | Study-wide | 140170 | TCTT=0.991938 | delCTT=0.008062 |
| gnomAD - Genomes | European | Sub | 75882 | TCTT=0.98752 | delCTT=0.01248 |
| gnomAD - Genomes | African | Sub | 42026 | TCTT=0.99738 | delCTT=0.00262 |
| gnomAD - Genomes | American | Sub | 13656 | TCTT=0.99700 | delCTT=0.00300 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | TCTT=0.9958 | delCTT=0.0042 |
| gnomAD - Genomes | East Asian | Sub | 3132 | TCTT=1.0000 | delCTT=0.0000 |
| gnomAD - Genomes | Other | Sub | 2150 | TCTT=0.9916 | delCTT=0.0084 |
| ExAC | Global | Study-wide | 121296 | TCTT=0.993215 | delCTT=0.006785 |
| ExAC | Europe | Sub | 73282 | TCTT=0.99017 | delCTT=0.00983 |
| ExAC | Asian | Sub | 25154 | TCTT=0.99837 | delCTT=0.00163 |
| ExAC | American | Sub | 11564 | TCTT=0.99663 | delCTT=0.00337 |
| ExAC | African | Sub | 10392 | TCTT=0.99798 | delCTT=0.00202 |
| ExAC | Other | Sub | 904 | TCTT=0.998 | delCTT=0.002 |
| Allele Frequency Aggregator | Total | Global | 92920 | TCTT=0.99688 | delCTT=0.00312, dupCTT=0.00000 |
| Allele Frequency Aggregator | European | Sub | 79898 | TCTT=0.99685 | delCTT=0.00315, dupCTT=0.00000 |
| Allele Frequency Aggregator | African | Sub | 4292 | TCTT=0.9986 | delCTT=0.0014, dupCTT=0.0000 |
| Allele Frequency Aggregator | Other | Sub | 3764 | TCTT=0.9926 | delCTT=0.0074, dupCTT=0.0000 |
| Allele Frequency Aggregator | Asian | Sub | 3328 | TCTT=1.0000 | delCTT=0.0000, dupCTT=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 928 | TCTT=0.998 | delCTT=0.002, dupCTT=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 436 | TCTT=0.995 | delCTT=0.005, dupCTT=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 274 | TCTT=1.000 | delCTT=0.000, dupCTT=0.000 |
| The PAGE Study | Global | Study-wide | 78696 | TCTT=0.99645 | delCTT=0.00355 |
| The PAGE Study | AfricanAmerican | Sub | 32514 | TCTT=0.99668 | delCTT=0.00332 |
| The PAGE Study | Mexican | Sub | 10808 | TCTT=0.99528 | delCTT=0.00472 |
| The PAGE Study | Asian | Sub | 8316 | TCTT=1.0000 | delCTT=0.0000 |
| The PAGE Study | PuertoRican | Sub | 7918 | TCTT=0.9975 | delCTT=0.0025 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | TCTT=0.9963 | delCTT=0.0037 |
| The PAGE Study | Cuban | Sub | 4230 | TCTT=0.9941 | delCTT=0.0059 |
| The PAGE Study | Dominican | Sub | 3828 | TCTT=0.9950 | delCTT=0.0050 |
| The PAGE Study | CentralAmerican | Sub | 2450 | TCTT=0.9963 | delCTT=0.0037 |
| The PAGE Study | SouthAmerican | Sub | 1982 | TCTT=0.9965 | delCTT=0.0035 |
| The PAGE Study | NativeAmerican | Sub | 1260 | TCTT=0.9841 | delCTT=0.0159 |
| The PAGE Study | SouthAsian | Sub | 856 | TCTT=0.996 | delCTT=0.004 |
| 1000Genomes_30x | Global | Study-wide | 6404 | TCTT=0.9961 | delCTT=0.0039 |
| 1000Genomes_30x | African | Sub | 1786 | TCTT=1.0000 | delCTT=0.0000 |
| 1000Genomes_30x | Europe | Sub | 1266 | TCTT=0.9913 | delCTT=0.0087 |
| 1000Genomes_30x | South Asian | Sub | 1202 | TCTT=0.9967 | delCTT=0.0033 |
| 1000Genomes_30x | East Asian | Sub | 1170 | TCTT=1.0000 | delCTT=0.0000 |
| 1000Genomes_30x | American | Sub | 980 | TCTT=0.990 | delCTT=0.010 |
| 1000Genomes | Global | Study-wide | 5008 | TCTT=0.9960 | delCTT=0.0040 |
| 1000Genomes | African | Sub | 1322 | TCTT=1.0000 | delCTT=0.0000 |
| 1000Genomes | East Asian | Sub | 1008 | TCTT=1.0000 | delCTT=0.0000 |
| 1000Genomes | Europe | Sub | 1006 | TCTT=0.9911 | delCTT=0.0089 |
| 1000Genomes | South Asian | Sub | 978 | TCTT=0.996 | delCTT=0.004 |
| 1000Genomes | American | Sub | 694 | TCTT=0.990 | delCTT=0.010 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | TCTT=0.9929 | delCTT=0.0071 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | TCTT=0.981 | delCTT=0.019 |
| Northern Sweden | ACPOP | Study-wide | 600 | TCTT=0.990 | delCTT=0.010 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 7 | NC_000007.14:g.117559592_117559594del |
| GRCh38.p14 chr 7 | NC_000007.14:g.117559592_117559594dup |
| GRCh37.p13 chr 7 | NC_000007.13:g.117199646_117199648del |
| GRCh37.p13 chr 7 | NC_000007.13:g.117199646_117199648dup |
| CFTR RefSeqGene (LRG_663) | NG_016465.4:g.98809_98811del |
| CFTR RefSeqGene (LRG_663) | NG_016465.4:g.98809_98811dup |
Gene: CFTR, CF transmembrane conductance regulator
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| CFTR transcript | NM_000492.4:c.1521_1523del | F [ATCT] > [ATT] | Coding Sequence Variant |
| cystic fibrosis transmembrane conductance regulator | NP_000483.3:p.Phe508del | F (Phe) > () | Inframe Deletion |
| CFTR transcript | NM_000492.4:c.1521_1523dup | F [TTT] > FF [TTCTTT] | Coding Sequence Variant |
| cystic fibrosis transmembrane conductance regulator | NP_000483.3:p.Phe508dup | F (Phe) > FF (PhePhe) | Inframe Insertion |
Gene: CFTR-AS1, CFTR antisense RNA 1
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| CFTR-AS1 transcript | NR_149084.1:n. | N/A | Intron Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Allele: delCTT (allele ID:
22144
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000007523.46 | Cystic fibrosis | Pathogenic |
| RCV000007524.11 | Bronchiectasis with or without elevated sweat chloride 1, modifier of | Risk-Factor |
| RCV000058929.43 | not provided | Pathogenic |
| RCV000119038.7 | Hereditary pancreatitis | Pathogenic |
| RCV000624683.2 | Inborn genetic diseases | Pathogenic |
| RCV000626692.2 | Duodenal stenosis | Likely-Pathogenic |
| RCV000626693.2 | Recurrent pancreatitis | Pathogenic |
| RCV000785641.2 | Cystic fibrosis | Pathogenic |
| RCV001000022.5 | not specified | Pathogenic |
| RCV001004459.3 | Congenital bilateral aplasia of vas deferens from CFTR mutation,Cystic fibrosis | Pathogenic |
| RCV001642198.2 | Obstructive azoospermia | Pathogenic |
| RCV001787370.2 | ivacaftor / lumacaftor response - Efficacy | Drug-Response |
| RCV001787371.2 | ivacaftor / tezacaftor response - Efficacy | Drug-Response |
| RCV001831519.3 | CFTR-related disorders | Pathogenic |
| RCV002243627.2 | Cystic fibrosis,Hereditary pancreatitis | Pathogenic |
| RCV002251888.2 | See cases | Pathogenic |
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | TCTT= | delCTT | dupCTT |
|---|---|---|---|
| GRCh38.p14 chr 7 | NC_000007.14:g.117559591_117559594= | NC_000007.14:g.117559592_117559594del | NC_000007.14:g.117559592_117559594dup |
| GRCh37.p13 chr 7 | NC_000007.13:g.117199645_117199648= | NC_000007.13:g.117199646_117199648del | NC_000007.13:g.117199646_117199648dup |
| CFTR RefSeqGene (LRG_663) | NG_016465.4:g.98808_98811= | NG_016465.4:g.98809_98811del | NG_016465.4:g.98809_98811dup |
| CFTR transcript | NM_000492.4:c.1520_1523= | NM_000492.4:c.1521_1523del | NM_000492.4:c.1521_1523dup |
| CFTR transcript | NM_000492.3:c.1520_1523= | NM_000492.3:c.1521_1523del | NM_000492.3:c.1521_1523dup |
| cystic fibrosis transmembrane conductance regulator | NP_000483.3:p.Ile507_Phe508= | NP_000483.3:p.Phe508del | NP_000483.3:p.Phe508dup |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
41 SubSNP,
11 Frequency,
16 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | SNPEDIA | ss252440416 | Jul 08, 2010 (132) |
| 2 | NCBI-CURATED-RECORDS | ss263192966 | Apr 19, 2012 (136) |
| 3 | 1000GENOMES | ss499991547 | May 04, 2012 (136) |
| 4 | EVA-GONL | ss984713522 | Aug 21, 2014 (136) |
| 5 | 1000GENOMES | ss1377595314 | Aug 21, 2014 (136) |
| 6 | EVA_DECODE | ss1594298901 | Apr 01, 2015 (136) |
| 7 | EVA_EXAC | ss1711868788 | Apr 01, 2015 (136) |
| 8 | CLINVAR | ss1751113321 | May 21, 2015 (136) |
| 9 | ILLUMINA | ss1959046051 | Feb 12, 2016 (136) |
| 10 | ILLUMINA | ss1959046052 | Feb 12, 2016 (147) |
| 11 | JJLAB | ss2030866475 | Sep 14, 2016 (136) |
| 12 | AFFY | ss2985418268 | Nov 08, 2017 (151) |
| 13 | AFFY | ss2986049754 | Nov 08, 2017 (151) |
| 14 | SWEGEN | ss3001909639 | Nov 08, 2017 (151) |
| 15 | ILLUMINA | ss3022772844 | Nov 08, 2017 (151) |
| 16 | ILLUMINA | ss3022772845 | Nov 08, 2017 (151) |
| 17 | ILLUMINA | ss3022772847 | Nov 08, 2017 (151) |
| 18 | ILLUMINA | ss3653307715 | Oct 12, 2018 (152) |
| 19 | ILLUMINA | ss3653307716 | Oct 12, 2018 (152) |
| 20 | ILLUMINA | ss3653307718 | Oct 12, 2018 (152) |
| 21 | ILLUMINA | ss3654179659 | Oct 12, 2018 (152) |
| 22 | EGCUT_WGS | ss3669661275 | Jul 13, 2019 (153) |
| 23 | EVA_DECODE | ss3720540645 | Jul 13, 2019 (153) |
| 24 | ILLUMINA | ss3726475926 | Jul 13, 2019 (153) |
| 25 | ILLUMINA | ss3726475928 | Jul 13, 2019 (153) |
| 26 | ACPOP | ss3735003910 | Jul 13, 2019 (153) |
| 27 | PAGE_CC | ss3771394296 | Jul 13, 2019 (153) |
| 28 | EVA | ss3824311653 | Apr 26, 2020 (154) |
| 29 | EVA | ss3986397108 | Apr 26, 2021 (155) |
| 30 | GNOMAD | ss4171647834 | Apr 26, 2021 (155) |
| 31 | TOPMED | ss4760956788 | Apr 26, 2021 (155) |
| 32 | EVA | ss5237649999 | Oct 13, 2022 (156) |
| 33 | 1000G_HIGH_COVERAGE | ss5274466901 | Oct 13, 2022 (156) |
| 34 | HUGCELL_USP | ss5471381085 | Oct 13, 2022 (156) |
| 35 | EVA | ss5512473867 | Oct 13, 2022 (156) |
| 36 | 1000G_HIGH_COVERAGE | ss5563476797 | Oct 13, 2022 (156) |
| 37 | SANFORD_IMAGENETICS | ss5624673295 | Oct 13, 2022 (156) |
| 38 | SANFORD_IMAGENETICS | ss5643832132 | Oct 13, 2022 (156) |
| 39 | EVA | ss5823421268 | Oct 13, 2022 (156) |
| 40 | EVA | ss5848691191 | Oct 13, 2022 (156) |
| 41 | EVA | ss5973021787 | Oct 13, 2022 (156) |
| 42 | 1000Genomes | NC_000007.13 - 117199645 | Oct 12, 2018 (152) |
| 43 | 1000Genomes_30x | NC_000007.14 - 117559591 | Oct 13, 2022 (156) |
| 44 | Genetic variation in the Estonian population | NC_000007.13 - 117199645 | Oct 12, 2018 (152) |
| 45 | ExAC | NC_000007.13 - 117199645 | Oct 12, 2018 (152) |
| 46 | gnomAD - Genomes | NC_000007.14 - 117559591 | Apr 26, 2021 (155) |
| 47 | gnomAD - Exomes | NC_000007.13 - 117199645 | Jul 13, 2019 (153) |
| 48 | Genome of the Netherlands Release 5 | NC_000007.13 - 117199645 | Apr 26, 2020 (154) |
| 49 | Northern Sweden | NC_000007.13 - 117199645 | Jul 13, 2019 (153) |
| 50 | The PAGE Study | NC_000007.14 - 117559591 | Jul 13, 2019 (153) |
| 51 | TopMed | NC_000007.14 - 117559591 | Apr 26, 2021 (155) |
| 52 | ALFA | NC_000007.14 - 117559591 | Apr 26, 2021 (155) |
| 53 | ClinVar | RCV000007523.46 | Oct 13, 2022 (156) |
| 54 | ClinVar | RCV000007524.11 | Oct 13, 2022 (156) |
| 55 | ClinVar | RCV000058929.43 | Oct 13, 2022 (156) |
| 56 | ClinVar | RCV000119038.7 | Oct 13, 2022 (156) |
| 57 | ClinVar | RCV000624683.2 | Oct 13, 2022 (156) |
| 58 | ClinVar | RCV000626692.2 | Oct 13, 2022 (156) |
| 59 | ClinVar | RCV000626693.2 | Oct 13, 2022 (156) |
| 60 | ClinVar | RCV000785641.2 | Oct 13, 2022 (156) |
| 61 | ClinVar | RCV001000022.5 | Oct 13, 2022 (156) |
| 62 | ClinVar | RCV001004459.3 | Oct 13, 2022 (156) |
| 63 | ClinVar | RCV001642198.2 | Oct 13, 2022 (156) |
| 64 | ClinVar | RCV001787370.2 | Oct 13, 2022 (156) |
| 65 | ClinVar | RCV001787371.2 | Oct 13, 2022 (156) |
| 66 | ClinVar | RCV001831519.3 | Oct 13, 2022 (156) |
| 67 | ClinVar | RCV002243627.2 | Oct 13, 2022 (156) |
| 68 | ClinVar | RCV002251888.2 | Oct 13, 2022 (156) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
| Associated ID | History Updated (Build) |
|---|---|
| rs199826652 | Feb 27, 2017 (136) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss1594298901 | NC_000007.12:116986880:TCT: | NC_000007.14:117559590:TCTT:T | (self) |
| 38857340, 15399523, 8997799, 5884023, 9646381, 8288775, ss499991547, ss984713522, ss1377595314, ss1711868788, ss1959046051, ss2030866475, ss2985418268, ss3001909639, ss3022772844, ss3022772845, ss3653307715, ss3653307716, ss3654179659, ss3669661275, ss3735003910, ss3824311653, ss3986397108, ss5512473867, ss5643832132, ss5823421268, ss5973021787 | NC_000007.13:117199644:TCT: | NC_000007.14:117559590:TCTT:T | (self) |
| ss1959046052, ss2986049754, ss3022772847, ss3653307718, ss5624673295, ss5848691191 | NC_000007.13:117199645:CTT: | NC_000007.14:117559590:TCTT:T | (self) |
| 51002732, 274336755, 615765, 598334347, ss1751113321, ss3720540645, ss3726475926, ss3771394296, ss4171647834, ss4760956788, ss5237649999, ss5274466901, ss5471381085, ss5563476797 | NC_000007.14:117559590:TCT: | NC_000007.14:117559590:TCTT:T | (self) |
| RCV000007523.46, RCV000007524.11, RCV000058929.43, RCV000119038.7, RCV000624683.2, RCV000626692.2, RCV000626693.2, RCV000785641.2, RCV001000022.5, RCV001004459.3, RCV001642198.2, RCV001787370.2, RCV001787371.2, RCV001831519.3, RCV002243627.2, RCV002251888.2, 8392535859 | NC_000007.14:117559590:TCTT:T | NC_000007.14:117559590:TCTT:T | (self) |
| ss252440416, ss263192966, ss3726475928 | NC_000007.14:117559591:CTT: | NC_000007.14:117559590:TCTT:T | (self) |
| 8392535859 | NC_000007.14:117559590:TCTT:TCTTCTT | NC_000007.14:117559590:TCTT:TCTTCTT | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
52
citations for rs113993960
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 1370875 | Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin. | Casals T et al. | 1992 | American journal of human genetics |
| 1377276 | Cystic fibrosis mutations delta F508 and G542X in Jewish patients. | Lerer I et al. | 1992 | Journal of medical genetics |
| 1381146 | CFTR! | Fuller CM et al. | 1992 | The American journal of physiology |
| 1384321 | Mutation analysis of the cystic fibrosis transmembrane regulator gene in Native American populations of the southwest. | Grebe TA et al. | 1992 | American journal of human genetics |
| 1536179 | 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 et al. | 1992 | American journal of medical genetics |
| 1673094 | Frequency of the phenylalanine deletion (delta F508) in the CF gene of Belgian cystic fibrosis patients. | Wauters JG et al. | 1991 | Clinical genetics |
| 1756602 | Genetic epidemiology of cystic fibrosis in Saguenay-Lac-St-Jean (Quebec, Canada). | Daigneault J et al. | 1991 | Clinical genetics |
| 1937486 | Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada). | De Braekeleer M et al. | 1991 | Human heredity |
| 1997384 | A pooling strategy for heterozygote screening of the delta F508 cystic fibrosis mutation. | Gille C et al. | 1991 | Human genetics |
| 2210767 | Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. European Working Group on CF Genetics (EWGCFG). | 1990 | Human genetics | |
| 2220803 | Cystic fibrosis mutations in North American populations of French ancestry: analysis of Quebec French-Canadian and Louisiana Acadian families. | Rozen R et al. | 1990 | American journal of human genetics |
| 2236053 | Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. | Kerem BS et al. | 1990 | Proceedings of the National Academy of Sciences of the United States of America |
| 2300168 | PCR test for cystic fibrosis deletion. | Ballabio A et al. | 1990 | Nature |
| 2475911 | Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. | Riordan JR et al. | 1989 | Science (New York, N.Y.) |
| 2570460 | Identification of the cystic fibrosis gene: genetic analysis. | Kerem B et al. | 1989 | Science (New York, N.Y.) |
| 7509564 | Genetic analysis of Hispanic individuals with cystic fibrosis. | Grebe TA et al. | 1994 | American journal of human genetics |
| 7537148 | Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population. | Russo MP et al. | 1995 | Human mutation |
| 9135274 | delta F508 in cystic fibrosis: willing but not able. | Southern KW et al. | 1997 | Archives of disease in childhood |
| 9439669 | High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes. | Casals T et al. | 1997 | Human genetics |
| 11280952 | Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. | Grody WW et al. | 2001 | Genetics in medicine |
| 15141088 | Rescuing cystic fibrosis transmembrane conductance regulator (CFTR)-processing mutants by transcomplementation. | Cormet-Boyaka E et al. | 2004 | Proceedings of the National Academy of Sciences of the United States of America |
| 15246977 | Role of Cftr genotype in the response to chronic Pseudomonas aeruginosa lung infection in mice. | van Heeckeren AM et al. | 2004 | American journal of physiology. Lung cellular and molecular physiology |
| 15367919 | Fcgamma receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis. | De Rose V et al. | 2005 | European journal of human genetics |
| 15371902 | Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. | Watson MS et al. | 2004 | Genetics in medicine |
| 15948195 | Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening. | Quint A et al. | 2005 | American journal of medical genetics. Part A |
| 17206681 | Potential role for the common cystic fibrosis DeltaF508 mutation in Crohn's disease. | Bresso F et al. | 2007 | Inflammatory bowel diseases |
| 17413420 | Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens. | Grangeia A et al. | 2007 | Genetics in medicine |
| 17692578 | Liquid movement across the surface epithelium of large airways. | Chambers LA et al. | 2007 | Respiratory physiology & neurobiology |
| 18507830 | Could a defective epithelial sodium channel lead to bronchiectasis. | Fajac I et al. | 2008 | Respiratory research |
| 19774621 | Clinical and molecular characterization of S1118F-CFTR. | Penmatsa H et al. | 2009 | Pediatric pulmonology |
| 19846789 | Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770. | Van Goor F et al. | 2009 | Proceedings of the National Academy of Sciences of the United States of America |
| 20595578 | Peripheral protein quality control removes unfolded CFTR from the plasma membrane. | Okiyoneda T et al. | 2010 | Science (New York, N.Y.) |
| 20705837 | Cell Biology. The proteome in balance. | Hutt D et al. | 2010 | Science (New York, N.Y.) |
| 21416780 | CFTR allelic heterogeneity in Mexican patients with cystic fibrosis: implications for molecular screening. | Chávez-Saldaña M et al. | 2010 | Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion |
| 21602569 | Probing conformational rescue induced by a chemical corrector of F508del-cystic fibrosis transmembrane conductance regulator (CFTR) mutant. | Yu W et al. | 2011 | The Journal of biological chemistry |
| 21825083 | 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 et al. | 2012 | Thorax |
| 21976485 | Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809. | Van Goor F et al. | 2011 | Proceedings of the National Academy of Sciences of the United States of America |
| 22293084 | Ivacaftor potentiation of multiple CFTR channels with gating mutations. | Yu H et al. | 2012 | Journal of cystic fibrosis |
| 22383668 | Ivacaftor in subjects with cystic fibrosis who are homozygous for the F508del-CFTR mutation. | Flume PA et al. | 2012 | Chest |
| 22942289 | 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 et al. | 2012 | The Journal of biological chemistry |
| 22981120 | A population-based study of autosomal-recessive disease-causing mutations in a founder population. | Chong JX et al. | 2012 | American journal of human genetics |
| 22992668 | Pharmacogenomics knowledge for personalized medicine. | Whirl-Carrillo M et al. | 2012 | Clinical pharmacology and therapeutics |
| 23757202 | Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data. | Bean LJ et al. | 2013 | Human mutation |
| 23974870 | Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. | Sosnay PR et al. | 2013 | Nature genetics |
| 24033266 | A systematic approach to assessing the clinical significance of genetic variants. | Duzkale H et al. | 2013 | Clinical genetics |
| 24559724 | 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 et al. | 2014 | Fertility and sterility |
| 24973281 | 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 et al. | 2014 | The Lancet. Respiratory medicine |
| 25741868 | Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. | Richards S et al. | 2015 | Genetics in medicine |
| 25981758 | Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR. | Wainwright CE et al. | 2015 | The New England journal of medicine |
| 26968770 | Combination therapy with cystic fibrosis transmembrane conductance regulator modulators augment the airway functional microanatomy. | Birket SE et al. | 2016 | American journal of physiology. Lung cellular and molecular physiology |
| 27214033 | Mechanistic Approaches to Improve Correction of the Most Common Disease-Causing Mutation in Cystic Fibrosis. | Bali V et al. | 2016 | PloS one |
| 27298017 | 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 et al. | 2016 | The Lancet. Respiratory medicine |
Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.