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CFTR-NGS variants catalogue
Variant hg19:chr7:117278303G/C
| Name | NM_000492.4:c.3718-4189G>C |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117278303G>C UCSC gnomAD |
| #Exon/intron | intron 22 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | TCTAAGAAAAGTTGTTTATTTTTCA G TGTGCTCTGCTTTTTACTTGTTACG |
| Mutant sequence | TCTAAGAAAAGTTGTTTATTTTTCA C TGTGCTCTGCTTTTTACTTGTTACG |
| MAF (GnomAD) | 2.02e-03 |
| Splicing prediction (SpliceAI) | AG: 0.00 (32) AL: 0.01 (1) DG: 0.00 (-21) DL: 0.00 (1) |
 Not found |  Not found | dbSNP rs13231082 |  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 |
| CFTR-RD | 1
|
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| MUCO07621 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 1887 | 195 |
| 9663 | CFTR-RD | Montpellier | 160218_varilh | heterozygous | PASS | 5639 | 539 |
