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CFTR-NGS variants catalogue
Variant hg19:chr7:117252977A/G
| Name | NM_000492.4:c.3367+1115A>G |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117252977A>G UCSC gnomAD |
| #Exon/intron | intron 20 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | GTCTCCATTCTGGCCTCCTGAATTT A CAGGAGAGTTCCTCTGTACAAACTC |
| Mutant sequence | GTCTCCATTCTGGCCTCCTGAATTT G CAGGAGAGTTCCTCTGTACAAACTC |
| MAF (GnomAD) | 3.21e-02 |
| Splicing prediction (SpliceAI) | AG: 0.00 (9) AL: 0.00 (4) DG: 0.00 (-31) DL: 0.00 (3) |
 Not found |  Not found | dbSNP rs73215927 |  Not found |  |
| Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
| not verified | not performed |
No patient found in CFTR-France |
| TOTAL NUMBER OF INDIVIDUALS | 19 |
|---|---|
| Asymptomatic | 3 |
| CF | 2 |
| CFTR-RD | 3
|
| Pending (NBS) | 1 |
| Suspicion of CF | 10 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| m9947 | Asymptomatic | Montpellier | 150419_Altieri | heterozygous | PASS | 2542 | 208 |
| 8989 | Asymptomatic | Montpellier | 40216_varilh | heterozygous | PASS | 1601 | 147 |
| m9946 | Asymptomatic | Montpellier | 150419_Altieri | heterozygous | PASS | 1082 | 144 |
| 18MU01177 | CF | Cochin | 150419_Altieri | heterozygous | PASS | 2121 | 193 |
| P3Cr | CF | Montpellier | 230414_varilh | heterozygous | PASS | 3715 | 188 |
| 3199 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 2606 | 238 |
| 5004 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 1582 | 175 |
| 5 | CFTR-RD | Montpellier | 150517_varilh | heterozygous | PASS | 2606 | 252 |
| 11 | Pending (NBS) | Montpellier | 150517_varilh | heterozygous | PASS | 3264 | 256 |
| cad200369 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 1696 | 227 |
| m1552 | Suspicion of CF | Montpellier | 230414_varilh | heterozygous | PASS | 6969 | 450 |
| csg182474 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 1087 | 183 |
| csg183384 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 1964 | 167 |
| cad200368 | Suspicion of CF | Montpellier | 151220_Altieri | homozygous | PASS | 4561 | 163 |
| cad190462 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 2875 | 230 |
| m10080 | Suspicion of CF | Montpellier | 150419_Altieri | homozygous | PASS | 6213 | 175 |
| 8988 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | PASS | 2129 | 191 |
| P1Cr | Suspicion of CF | Montpellier | 230414_varilh | heterozygous | PASS | 688 | 235 |
| m4857 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 2592 | 292 |
