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CFTR-NGS variants catalogue
Variant hg19:chr7:117252288T/TACACAC,TACACACAC
| Name | NM_000492.4:c.3367+448_3367+453dup6 |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117252310_117252315dup UCSC |
| #Exon/intron | intron 20 |
| Type in CFTR-NGS catalogue | microsatellite |
| Class in CFTR-France | not reported |
| WT sequence | ACACACACACACACACACACACACA ------ GAGTTCCTCTTGTCGGTAAGTTTTG |
| Mutant sequence | ACACACACACACACACACACACACA CACACA GAGTTCCTCTTGTCGGTAAGTTTTG |
| 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 | 2 |
| CFTR-RD | 2
|
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| m5062 | Asymptomatic | Montpellier | 230414_varilh | heterozygous | PASS | 3824 | 237 |
| MUCO07319 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 955 | 25 |
| MUCO07358 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | alleleBias | 150 | 0 |
| m6426 | CF | Montpellier | 230414_varilh | heterozygous | PASS | 3962 | 213 |
| P1B | CF | Montpellier | 230414_varilh | heterozygous | PASS | 3299 | 127 |
| P1Co | CFTR-RD | Montpellier | 230414_varilh | heterozygous | PASS | 3635 | 186 |
| 3357 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 611 | 58 |
