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CFTR-NGS variants catalogue
Variant hg19:chr7:117235839C/T
| Name | NM_000492.4:c.2619+727C>T |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117235839C>T UCSC gnomAD |
| #Exon/intron | intron 15 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | TGTATGCTACCATTAACTAAGGAGG C TGAGGTGGGAGAATCGCTTGAGCCT |
| Mutant sequence | TGTATGCTACCATTAACTAAGGAGG T TGAGGTGGGAGAATCGCTTGAGCCT |
| MAF (GnomAD) | 4.40e-03 |
| Splicing prediction (SpliceAI) | AG: 0.00 (4) AL: 0.00 (-4) DG: 0.00 (-35) DL: 0.00 (4) |
 Not found |  Not found | dbSNP rs187888178 |  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 | 4 |
|---|---|
| CFTR-RD | 2
|
| Pending (NBS) | 1 |
| Suspicion of CF | 1 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| 3199 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 1561 | 109 |
| 5 | CFTR-RD | Montpellier | 150517_varilh | heterozygous | PASS | 1155 | 118 |
| 11 | Pending (NBS) | Montpellier | 150517_varilh | heterozygous | PASS | 1494 | 134 |
| cad200368 | Suspicion of CF | Montpellier | 151220_Altieri | homozygous | PASS | 4531 | 183 |
