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CFTR-NGS variants catalogue
Variant hg19:chr7:117213099TCTCTCTCTCTCTTG/T
| Name | NM_000492.4:c.1584+13403_1584+13416del14 |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117213112_117213125del UCSC |
| #Exon/intron | intron 11 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | CCTTTCTCTCTCTCTCTCTCTCTCT TGCTCTCTCTCTCT CTTTCTGTCAATATAGCAACACCCT |
| Mutant sequence | CCTTTCTCTCTCTCTCTCTCTCTCT -------------- CTTTCTGTCAATATAGCAACACCCT |
| MAF (GnomAD) | 1.54e-04 |
| Splicing prediction (SpliceAI) | - |
 Not found |  Not found | dbSNP rs1156598551 |  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 |
| Pending (NBS) | 1 |
| Suspicion of CF | 1 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| MUCO07319 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 5304 | 79 |
| 6 | Pending (NBS) | Montpellier | 150517_varilh | heterozygous | LowVariantFreq | 258 | 151 |
| m9196 | Suspicion of CF | Montpellier | 150419_Altieri | heterozygous | LowVariantFreq | 791 | 234 |
