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CFTR-NGS variants catalogue
Variant hg19:chr7:117139260A/G
| Name | NM_000492.4:c.54-5047A>G |
| Protein name | NP_000483.3:p.(=) |
| Genomic name (hg19) | chr7:g.117139260A>G UCSC gnomAD |
| #Exon/intron | intron 1 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | CATGACCTTCATCTGAAGTTTTGGC A GATGAAAATGTCAGATGCGTCTTTT |
| Mutant sequence | CATGACCTTCATCTGAAGTTTTGGC G GATGAAAATGTCAGATGCGTCTTTT |
| MAF (GnomAD) | 9.07e-05 |
| Splicing prediction (SpliceAI) | AG: 0.00 (-35) AL: 0.00 (2) DG: 0.00 (9) DL: 0.00 (-7) |
 Not found |  Not found | dbSNP rs192458279 |  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 |
|---|---|---|---|---|---|---|---|
| cad200291 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 543 | 57 |
