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CFTR-NGS variants catalogue
Variant hg19:chr7:117140634G/A
| Name | NM_000492.4:c.54-3673G>A |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117140634G>A UCSC gnomAD |
| #Exon/intron | intron 1 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | GCTGGGATTACAGGCGTGAGCCACC G CGCCTGGCCTGATGGGACATATTTT |
| Mutant sequence | GCTGGGATTACAGGCGTGAGCCACC A CGCCTGGCCTGATGGGACATATTTT |
| MAF (GnomAD) | 5.57e-02 |
| Splicing prediction (SpliceAI) | AG: 0.00 (2) AL: 0.00 (6) DG: 0.00 (-11) DL: 0.00 (43) |
 Not found |  Not found | dbSNP rs62469434 |  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 | 14 |
|---|---|
| Asymptomatic | 5 |
| CF | 2 |
| CFTR-RD | 2
|
| Pending (NBS) | 1 |
| Suspicion of CF | 4 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| MUCO07168 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 769 | 72 |
| MUCO07299 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 1086 | 129 |
| MUCO07300 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 312 | 21 |
| m9947 | Asymptomatic | Montpellier | 150419_Altieri | heterozygous | PASS | 1151 | 87 |
| T17 | Asymptomatic | Montpellier | 160218_varilh | heterozygous | PASS | 811 | 70 |
| 9777 | CF | Montpellier | 160218_varilh | heterozygous | PASS | 841 | 89 |
| 9078 | CF | Montpellier | 160218_varilh | heterozygous | PASS | 855 | 86 |
| 16MU00510 | CFTR-RD | Cochin | 150419_Altieri | heterozygous | PASS | 737 | 62 |
| 3357 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 499 | 40 |
| 1 | Pending (NBS) | Montpellier | 150517_varilh | heterozygous | PASS | 1272 | 154 |
| 8988 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | PASS | 815 | 69 |
| m8852 | Suspicion of CF | Montpellier | 150419_Altieri | heterozygous | PASS | 946 | 66 |
| 7015 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | PASS | 1572 | 143 |
| P6Cr | Suspicion of CF | Montpellier | 230414_varilh | heterozygous | PASS | 5797 | 445 |
