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CFTR-NGS variants catalogue
Variant hg19:chr7:117259197T/C
| Name | NM_000492.4:c.3468+4430T>C |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117259197T>C UCSC gnomAD |
| #Exon/intron | intron 21 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | ATAGTTGTTATTGCTAAAGCAATTA T CTTACATCTTTTCCTCCAAAACAAA |
| Mutant sequence | ATAGTTGTTATTGCTAAAGCAATTA C CTTACATCTTTTCCTCCAAAACAAA |
| MAF (GnomAD) | 3.08e-02 |
| Splicing prediction (SpliceAI) | AG: 0.00 (25) AL: 0.00 (27) DG: 0.00 (25) DL: 0.00 (-36) |
 Not found |  Not found | dbSNP rs1429562 |  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 | 7 |
|---|---|
| Asymptomatic | 3 |
| CF | 1 |
| CFTR-RD | 1
|
| Suspicion of CF | 2 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| MUCO07168 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 1360 | 135 |
| MUCO07319 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 3360 | 307 |
| 8989 | Asymptomatic | Montpellier | 40216_varilh | heterozygous | PASS | 2997 | 272 |
| 9883 | CF | Montpellier | 160218_varilh | heterozygous | PASS | 3584 | 321 |
| 16MU00179 | CFTR-RD | Cochin | 150419_Altieri | heterozygous | PASS | 2658 | 222 |
| P5Cr | Suspicion of CF | Montpellier | 230414_varilh | heterozygous | PASS | 4578 | 377 |
| 8 | Suspicion of CF | Montpellier | 150517_varilh | heterozygous | PASS | 4181 | 402 |
