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CFTR-NGS variants catalogue
Variant hg19:chr7:117272611C/CA
| Name | NM_000492.4:c.3717+4799dupA |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117272623dup UCSC |
| #Exon/intron | intron 22 |
| Type in CFTR-NGS catalogue | repeat |
| Class in CFTR-France | not reported |
| WT sequence | GAGACACTGTCTCAAAAAAAAAAAA - GAAAAAGAAAAAGAAAAAAGAAAGG |
| Mutant sequence | GAGACACTGTCTCAAAAAAAAAAAA A GAAAAAGAAAAAGAAAAAAGAAAGG |
| MAF (GnomAD) | 2.33e-02 |
| Splicing prediction (SpliceAI) | AG: 0.00 (-15) AL: 0.00 (14) DG: 0.00 (-15) DL: 0.00 (-21) |
 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 | 3 |
|---|---|
| Asymptomatic | 1 |
| CFTR-RD | 1
|
| Suspicion of CF | 1 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| MUCO07407 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 163 | 84 |
| 5004 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 323 | 182 |
| P7Cr | Suspicion of CF | Montpellier | 230414_varilh | heterozygous | PASS | 2182 | 430 |
