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CFTR-NGS variants catalogue
Variant hg19:chr7:117289331GAT/G
| Name | NM_000492.4:c.3874-3564_3874-3563delAT |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117289332_117289333del UCSC |
| #Exon/intron | intron 23 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | ACATTTTAATAGAATTATACATGGG AT GTGTGTGTGTGTGTGTGTGTGTGTA |
| Mutant sequence | ACATTTTAATAGAATTATACATGGG -- GTGTGTGTGTGTGTGTGTGTGTGTA |
| MAF (GnomAD) | 0.00e+00 |
| Splicing prediction (SpliceAI) | AG: 0.00 (-50) AL: 0.00 (29) DG: 0.00 (0) DL: 0.00 (-12) |
 Not found |  Not found | dbSNP rs67557270 |  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 | 8 |
|---|---|
| Asymptomatic | 3 |
| CF | 3 |
| CFTR-RD | 1
|
| Suspicion of CF | 1 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| m5062 | Asymptomatic | Montpellier | 230414_varilh | heterozygous | PASS | 1256 | 275 |
| m93 | Asymptomatic | Montpellier | 230414_varilh | heterozygous | PASS | 128 | 47 |
| T18 | Asymptomatic | Montpellier | 160218_varilh | heterozygous | PASS | 712 | 84 |
| m2760 | CF | Montpellier | 230414_varilh | heterozygous | LowVariantFreq | 706 | 256 |
| m6426 | CF | Montpellier | 230414_varilh | heterozygous | PASS | 925 | 168 |
| P1B | CF | Montpellier | 230414_varilh | heterozygous | PASS | 1173 | 340 |
| P1Co | CFTR-RD | Montpellier | 230414_varilh | heterozygous | PASS | 2387 | 450 |
| m9196 | Suspicion of CF | Montpellier | 150419_Altieri | heterozygous | PASS | 64 | 24 |
