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CFTR-NGS variants catalogue
Variant hg19:chr7:117289551GTA/G
| Name | NM_000492.4:c.3874-3323_3874-3322delAT |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117289573_117289574del UCSC |
| #Exon/intron | intron 23 |
| Type in CFTR-NGS catalogue | microsatellite |
| Class in CFTR-France | not reported |
| WT sequence | TGTGTATATATATATATATATATAT AT TTTTTTTTTCCTGAGCCAAAACAAA |
| Mutant sequence | TGTGTATATATATATATATATATAT -- TTTTTTTTTCCTGAGCCAAAACAAA |
| MAF (GnomAD) | 1.53e-05 |
| Splicing prediction (SpliceAI) | AG: 0.00 (-11) AL: 0.00 (-49) DG: 0.00 (-11) DL: 0.00 (-13) |
 Not found |  Not found | dbSNP no rs |  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 | 13 |
|---|---|
| Asymptomatic | 3 |
| CF | 1 |
| CFTR-RD | 3
|
| Pending (NBS) | 2 |
| Suspicion of CF | 4 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| MUCO07585 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | alleleBias | 255 | 0 |
| MUCO07299 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 69 | 118 |
| vd62 | Asymptomatic | Montpellier | 230414_varilh | heterozygous | PASS | 27 | 149 |
| m2369 | CF | Montpellier | 230414_varilh | heterozygous | PASS | 57 | 98 |
| P2Cr | CFTR-RD | Montpellier | 230414_varilh | heterozygous | PASS | 2994 | 0 |
| 6959 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 171 | 38 |
| m8107 | CFTR-RD | Montpellier | 150419_Altieri | heterozygous | PASS | 546 | 80 |
| 5543 | Pending (NBS) | Montpellier | 40216_varilh | heterozygous | alleleBias | 503 | 0 |
| 26 | Pending (NBS) | Montpellier | 150517_varilh | heterozygous | PASS | 308 | 118 |
| P6Cr | Suspicion of CF | Montpellier | 230414_varilh | heterozygous | PASS | 2994 | 0 |
| P4Cr | Suspicion of CF | Montpellier | 230414_varilh | heterozygous | PASS | 1590 | 456 |
| 7015 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | PASS | 473 | 0 |
| 8293 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | PASS | 227 | 0 |
