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CFTR-NGS variants catalogue
Variant hg19:chr7:117276049G/A
| Name | NM_000492.4:c.3718-6443G>A |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117276049G>A UCSC gnomAD |
| #Exon/intron | intron 22 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | TTATGTAGATCCAAGTTTCTGACCT G TATAATTTTCCTTTTCTCTCTTCAG |
| Mutant sequence | TTATGTAGATCCAAGTTTCTGACCT A TATAATTTTCCTTTTCTCTCTTCAG |
| MAF (GnomAD) | 1.02e-02 |
| Splicing prediction (SpliceAI) | AG: 0.00 (26) AL: 0.00 (-17) DG: 0.00 (49) DL: 0.00 (-1) |
 Not found |  Not found | dbSNP rs147558885 |  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 |
|---|---|---|---|---|---|---|---|
| P7Cr | Suspicion of CF | Montpellier | 230414_varilh | heterozygous | PASS | 3905 | 318 |
