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CFTR-NGS variants catalogue
Variant hg19:chr7:117182587C/T
| Name | NM_000492.4:c.1209+425C>T |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117182587C>T UCSC gnomAD |
| #Exon/intron | intron 9 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | CTGCACTCCAGCCTGGGCAACAAGG C GAGACTCTGTCTGAAAAAGAAAAAA |
| Mutant sequence | CTGCACTCCAGCCTGGGCAACAAGG T GAGACTCTGTCTGAAAAAGAAAAAA |
| MAF (GnomAD) | 1.50e-02 |
| Splicing prediction (SpliceAI) | AG: 0.00 (-2) AL: 0.00 (32) DG: 0.01 (-2) DL: 0.00 (27) |
 Not found |  Not found | dbSNP rs117832997 |  Not found |  |
| Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
| present | not performed |
No patient found in CFTR-France |
| TOTAL NUMBER OF INDIVIDUALS | 7 |
|---|---|
| CF | 3 |
| CFTR-RD | 1
|
| Suspicion of CF | 3 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| 21 | CF | Montpellier | 150517_varilh | heterozygous | PASS | 4010 | 427 |
| 22 | CF | Montpellier | 150517_varilh | heterozygous | PASS | 5148 | 461 |
| 9883 | CF | Montpellier | 160218_varilh | heterozygous | PASS | 5003 | 457 |
| 6008 | CFTR-RD | Montpellier | 160218_varilh | homozygous | PASS | 7422 | 258 |
| P4Cr | Suspicion of CF | Montpellier | 230414_varilh | heterozygous | PASS | 6787 | 531 |
| 7648 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | PASS | 1586 | 160 |
| csg183926 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 385 | 93 |
