|
CFTR-NGS variants catalogue
Variant hg19:chr7:117260128AT/A
| Name | NM_000492.4:c.3468+5372delT |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117260139del UCSC |
| #Exon/intron | intron 21 |
| Type in CFTR-NGS catalogue | repeat |
| Class in CFTR-France | not reported |
| WT sequence | GAGTCATTTCTTCAATTTTTTTTTT T GGTCTCCTTTTAATGGTTTCTTGAT |
| Mutant sequence | GAGTCATTTCTTCAATTTTTTTTTT - GGTCTCCTTTTAATGGTTTCTTGAT |
| MAF (GnomAD) | 2.84e-05 |
| Splicing prediction (SpliceAI) | AG: 0.00 (-40) AL: 0.00 (-43) DG: 0.00 (12) DL: 0.00 (-33) |
 Not found |  Not found | dbSNP no rs |  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 | 4 |
| CFTR-RD | 2
|
| Suspicion of CF | 3 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| MUCO07319 | Asymptomatic | Montpellier | 100714_varilh | homozygous | PASS | 8556 | 473 |
| m2761 | Asymptomatic | Montpellier | 230414_varilh | heterozygous | PASS | 2124 | 227 |
| m5062 | Asymptomatic | Montpellier | 230414_varilh | homozygous | PASS | 4417 | 273 |
| m93 | Asymptomatic | Montpellier | 230414_varilh | heterozygous | PASS | 2276 | 213 |
| MUCO07168 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 2640 | 304 |
| m1558 | CF | Montpellier | 230414_varilh | heterozygous | PASS | 633 | 65 |
| P2B | CF | Montpellier | 230414_varilh | heterozygous | PASS | 2405 | 253 |
| P1B | CF | Montpellier | 230414_varilh | homozygous | PASS | 3839 | 209 |
| m2760 | CF | Montpellier | 230414_varilh | heterozygous | PASS | 2140 | 192 |
| 5914 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 4840 | 571 |
| 3641 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 6510 | 729 |
| 50070 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | PASS | 6052 | 678 |
| P5Cr | Suspicion of CF | Montpellier | 230414_varilh | heterozygous | PASS | 3025 | 355 |
| 7648 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | PASS | 1717 | 260 |
