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CFTR-NGS variants catalogue
Variant hg19:chr7:117189242C/A
| Name | NM_000492.4:c.1392+365C>A |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117189242C>A UCSC gnomAD |
| #Exon/intron | intron 10 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | GCTGGTCCAGGAAAATCATGACTTA C ATTTTGCCTTAGTAACCACATAAAC |
| Mutant sequence | GCTGGTCCAGGAAAATCATGACTTA A ATTTTGCCTTAGTAACCACATAAAC |
| MAF (GnomAD) | 1.32e-02 |
| Splicing prediction (SpliceAI) | AG: 0.00 (-11) AL: 0.00 (-43) DG: 0.00 (-4) DL: 0.00 (30) |
 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 | 4 |
|---|---|
| Asymptomatic | 2 |
| CF | 1 |
| Suspicion of CF | 1 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| 9878 | Asymptomatic | Montpellier | 160218_varilh | heterozygous | LowVariantFreq | 1260 | 864 |
| 9881 | Asymptomatic | Montpellier | 160218_varilh | heterozygous | LowVariantFreq | 295 | 688 |
| 9877 | CF | Montpellier | 160218_varilh | heterozygous | LowVariantFreq | 825 | 855 |
| 7648 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | PASS | 570 | 287 |
