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CFTR-NGS variants catalogue
Variant hg19:chr7:117139483C/CTGTG,CTGTGTG
| Name | NM_000492.4:c.54-4794_54-4791dupGTGT |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117139513_117139516dup UCSC |
| #Exon/intron | intron 1 |
| Type in CFTR-NGS catalogue | microsatellite |
| Class in CFTR-France | not reported |
| WT sequence | TGTGTGTGTGTGTGTGTGTGTGTGT ---- TTAAAAAATCAAGTGATAGGGCTTT |
| Mutant sequence | TGTGTGTGTGTGTGTGTGTGTGTGT GTGT TTAAAAAATCAAGTGATAGGGCTTT |
| MAF (GnomAD) | - |
| Splicing prediction (SpliceAI) | - |
 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 | 7 |
|---|---|
| Asymptomatic | 3 |
| CF | 1 |
| CFTR-RD | 2
|
| Pending (NBS) | 1 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| m2762 | Asymptomatic | Montpellier | 230414_varilh | heterozygous | PASS | 10255 | 219 |
| m4793 | Asymptomatic | Montpellier | 230414_varilh | heterozygous | PASS | 1142 | 174 |
| MUCO07381 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 3026 | 62 |
| m1558 | CF | Montpellier | 230414_varilh | heterozygous | PASS | 2525 | 94 |
| 6175 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 631 | 50 |
| 9 | CFTR-RD | Montpellier | 150517_varilh | heterozygous | PASS | 1222 | 97 |
| 3190 | Pending (NBS) | Montpellier | 40216_varilh | heterozygous | PASS | 405 | 41 |
