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CFTR-NGS variants catalogue
Variant hg19:chr7:117249075T/C
| Name | NM_000492.4:c.2989-1498T>C |
| Protein name | NP_000483.3:p.(=) |
| Genomic name (hg19) | chr7:g.117249075T>C UCSC gnomAD |
| #Exon/intron | intron 18 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | TTGCACAGCAGATCTCTGGAACTTA T TCATTTTGCACTACTGAAATTTTAT |
| Mutant sequence | TTGCACAGCAGATCTCTGGAACTTA C TCATTTTGCACTACTGAAATTTTAT |
| MAF (GnomAD) | 6.77e-04 |
| Splicing prediction (SpliceAI) | AG: 0.00 (-17) AL: 0.00 (39) DG: 0.00 (-33) DL: 0.00 (29) |
 Not found |  Not found | dbSNP rs376566175 |  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 | 1 |
|---|---|
| Suspicion of CF | 1 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| cad200419 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 457 | 117 |
