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CFTR-NGS variants catalogue
Variant hg19:chr7:117218381A/G
| Name | NM_000492.4:c.1585-9412A>G |
| Protein name | NP_000483.3:p.(=) |
| Genomic name (hg19) | chr7:g.117218381A>G UCSC gnomAD |
| #Exon/intron | intron 11 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | disease-causing |
| Subclass | CF-causing |
| WT sequence | TTCACCTCCACTTAATGAATAGTAC A TACATTTCTTTTTCCCCATGGTTTT |
| Mutant sequence | TTCACCTCCACTTAATGAATAGTAC G TACATTTCTTTTTCCCCATGGTTTT |
| MAF (GnomAD) | 6.98e-06 |
| Splicing prediction (SpliceAI) | AG: 0.00 (-45) AL: 0.00 (-5) DG: 0.68 (-5) DL: 0.00 (-6) |
 Not found |  Not found | dbSNP rs397508229 |  Not found |  |
| Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
| present | not performed |
5 individuals carrying this variant are reported in CFTR-France |
| TOTAL NUMBER OF INDIVIDUALS | 4 |
|---|---|
| Asymptomatic | 1 |
| CF | 3 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| 9878 | Asymptomatic | Montpellier | 160218_varilh | heterozygous | PASS | 6244 | 606 |
| 9877 | CF | Montpellier | 160218_varilh | heterozygous | PASS | 5608 | 550 |
| 9879 | CF | Montpellier | 160218_varilh | heterozygous | PASS | 4427 | 437 |
| 9883 | CF | Montpellier | 160218_varilh | heterozygous | PASS | 4601 | 426 |
