CFTR
CF transmembrane conductance regulator
Pharmacogene
Summary
This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefSeq, Aug 2017]
Known Variants3,250 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1195721615 | 7:117,118,841 | A/G | — | conflicting classifications of pathogenicity |
| rs1013075 | 7:117,118,910 | T/C | — | — |
| rs4148682 | 7:117,119,183 | T/G | upstream gene variant | benign |
| rs1584763860 | 7:117,119,210 | A/G | — | uncertain significance |
| rs34465975 | 7:117,119,262 | C/T | — | likely benign |
| rs1415964307 | 7:117,119,312 | T/C | — | uncertain significance |
| rs1030962741 | 7:117,119,321 | C/T | — | uncertain significance |
| rs181008242 | 7:117,119,337 | T/G | upstream gene variant | pathogenic |
| rs1797946768 | 7:117,119,397 | A/G | — | uncertain significance |
| rs1265630286 | 7:117,119,462 | T/C | — | uncertain significance |
| rs1554372953 | 7:117,119,475 | T/C | — | uncertain significance |
| rs879620559 | 7:117,119,547 | A/T | — | uncertain significance |
| rs2485607636 | 7:117,119,583 | A/G | — | uncertain significance |
| rs1797957104 | 7:117,119,598 | T/G | — | uncertain significance |
| rs1348978414 | 7:117,119,601 | C/A | — | uncertain significance |
| rs2484926414 | 7:117,119,604 | A/C | — | uncertain significance |
| rs1797957539 | 7:117,119,613 | C/G | — | uncertain significance |
| rs2484926462 | 7:117,119,631 | G/T | — | uncertain significance |
| rs2484926474 | 7:117,119,637 | C/G | — | likely benign |
| rs2116603126 | 7:117,119,638 | G/C | — | uncertain significance |
| rs1797959934 | 7:117,119,642 | A/G | — | likely benign |
| rs992706998 | 7:117,119,646 | G/A | — | likely benign |
| rs1377916663 | 7:117,119,652 | C/T | — | likely benign |
| rs397507565 | 7:117,119,654 | C/T | — | uncertain significance |
| rs185028612 | 7:117,119,688 | A/G | — | conflicting classifications of pathogenicity |
| rs943663200 | 7:117,119,701 | A/G | — | conflicting classifications of pathogenicity |
| rs1797962499 | 7:117,119,710 | G/A | — | uncertain significance |
| rs2484927022 | 7:117,119,796 | G/C | — | likely benign |
| rs576334053 | 7:117,119,802 | G/C | — | likely benign |
| rs139688774 | 7:117,119,861 | G/C | — | conflicting classifications of pathogenicity |
| rs1035377381 | 7:117,119,893 | G/A | — | uncertain significance |
| rs982968807 | 7:117,119,915 | T/A | — | conflicting classifications of pathogenicity |
| rs2484928019 | 7:117,119,917 | G/T | — | likely benign |
| rs73717525 | 7:117,119,923 | G/T | — | pathogenic |
| rs984964140 | 7:117,119,951 | G/T | — | uncertain significance |
| rs559554356 | 7:117,119,954 | C/A | — | uncertain significance |
| rs1418352110 | 7:117,119,962 | G/T | — | likely benign |
| rs962139308 | 7:117,119,965 | G/T | — | uncertain significance |
| rs1398247410 | 7:117,119,966 | G/T | — | uncertain significance |
| rs145483167 | 7:117,119,984 | G/A | — | uncertain significance |
| rs551681003 | 7:117,119,997 | G/C | — | uncertain significance |
| rs1244312586 | 7:117,120,001 | A/G | — | uncertain significance |
| rs2484928461 | 7:117,120,003 | G/T | — | uncertain significance |
| rs1328243797 | 7:117,120,010 | T/G | — | uncertain significance |
| rs563343413 | 7:117,120,033 | C/T | — | uncertain significance |
| rs1479378243 | 7:117,120,043 | G/T | — | uncertain significance |
| rs1797973431 | 7:117,120,047 | A/A | — | pathogenic |
| rs1191653568 | 7:117,120,056 | G/C | — | likely benign |
| rs530414231 | 7:117,120,064 | C/A | — | likely benign |
| rs756314710 | 7:117,120,115 | C/A | — | conflicting classifications of pathogenicity |
| rs769128872 | 7:117,120,133 | C/T | — | likely benign |
| rs902914688 | 7:117,120,136 | C/A | — | uncertain significance |
| rs1797976181 | 7:117,120,138 | C/T | — | likely benign |
| rs1800501 | 7:117,120,141 | G/C | — | uncertain significance |
| rs1797976459 | 7:117,120,142 | A/T | — | uncertain significance |
| rs369326781 | 7:117,120,145 | G/C | — | likely benign |
| rs770363945 | 7:117,120,147 | C/T | — | uncertain significance |
| rs895522825 | 7:117,120,148 | C/G | — | uncertain significance |
| rs397508328 | 7:117,120,149 | A/G | missense variant | pathogenic |
| rs397508476 | 7:117,120,150 | T/A | missense variant | pathogenic |
| rs397508657 | 7:117,120,151 | G/A | missense variant | pathogenic |
| rs397508740 | 7:117,120,152 | C/T | stop gained | pathogenic |
| rs1797976959 | 7:117,120,153 | A/C | — | uncertain significance |
| rs2116604544 | 7:117,120,155 | A/T | — | uncertain significance |
| rs1052894635 | 7:117,120,156 | G/T | — | uncertain significance |
| rs397508173 | 7:117,120,159 | C/T | missense variant | uncertain significance |
| rs1158877973 | 7:117,120,160 | G/T | — | likely benign |
| rs2484928867 | 7:117,120,161 | C/T | — | conflicting classifications of pathogenicity |
| rs193922501 | 7:117,120,162 | C/T | missense variant | pathogenic |
| rs751475070 | 7:117,120,163 | T/C | — | likely benign |
| rs1554373095 | 7:117,120,164 | C/G | — | uncertain significance |
| rs121909045 | 7:117,120,167 | G/T | stop gained | pathogenic |
| rs1204115625 | 7:117,120,171 | A/G | — | uncertain significance |
| rs1800071 | 7:117,120,172 | G/A | — | likely benign |
| rs949472192 | 7:117,120,174 | C/T | — | conflicting classifications of pathogenicity |
| rs1255831708 | 7:117,120,175 | C/T | — | likely benign |
| rs762241850 | 7:117,120,177 | G/A | — | uncertain significance |
| rs1369001389 | 7:117,120,178 | C/T | — | likely benign |
| rs1800072 | 7:117,120,179 | G/A | — | uncertain significance |
| rs397508635 | 7:117,120,186 | C/T | — | pathogenic |
| rs2484928947 | 7:117,120,187 | C/T | — | likely benign |
| rs397508673 | 7:117,120,188 | A/T | stop gained | pathogenic |
| rs772774651 | 7:117,120,189 | A/T | — | uncertain significance |
| rs397508715 | 7:117,120,191 | — | — | pathogenic |
| rs1562876459 | 7:117,120,192 | T/C | — | pathogenic |
| rs1212474322 | 7:117,120,193 | T/G | — | likely benign |
| rs779256353 | 7:117,120,197 | T/C | — | uncertain significance |
| rs748599579 | 7:117,120,200 | A/G | — | uncertain significance |
| rs1584764661 | 7:117,120,201 | G/T | — | uncertain significance |
| rs397508746 | 7:117,120,202 | G/T | splice region variant | pathogenic |
| rs2484929014 | 7:117,120,203 | T/C | — | pathogenic |
| rs1797978937 | 7:117,120,204 | G/C | — | uncertain significance |
| rs372610364 | 7:117,120,205 | A/T | — | conflicting classifications of pathogenicity |
| rs1584764672 | 7:117,120,209 | G/A | — | likely benign |
| rs745414764 | 7:117,120,210 | G/T | — | conflicting classifications of pathogenicity |
| rs2116604777 | 7:117,120,211 | T/C | — | likely benign |
| rs1166852332 | 7:117,120,212 | G/A | — | likely benign |
| rs769470402 | 7:117,120,213 | G/A | — | likely benign |
| rs2484929041 | 7:117,120,214 | C/A | — | likely benign |
| rs2484929046 | 7:117,120,215 | C/T | — | likely benign |
Showing 100 of 3,250 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.