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CFTR-NGS variants catalogue
Variant hg19:chr7:117254323T/C
| Name | NM_000492.4:c.3368-344T>C |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117254323T>C UCSC gnomAD |
| #Exon/intron | intron 20 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | CTTTTCCCCATTGCCCATTCTAATA T ATGTTACCGTTATTACTTATAGAAT |
| Mutant sequence | CTTTTCCCCATTGCCCATTCTAATA C ATGTTACCGTTATTACTTATAGAAT |
| MAF (GnomAD) | 5.00e-02 |
| Splicing prediction (SpliceAI) | AG: 0.00 (-45) AL: 0.00 (23) DG: 0.00 (47) DL: 0.00 (-15) |
 Not found |  Not found | dbSNP rs35347718 |  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 | 2 |
|---|---|
| Asymptomatic | 1 |
| Suspicion of CF | 1 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| MUCO07358 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 1834 | 70 |
| cad200291 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 3396 | 382 |
