|
CFTR-NGS variants catalogue
Variant hg19:chr7:117130915C/T
| Name | NM_000492.4:c.53+10714C>T |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117130915C>T UCSC gnomAD |
| #Exon/intron | intron 1 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | CTATGAATTAGACCCAGTGCTTTCT C TGAATTATGAAGGTCACACTCCTAC |
| Mutant sequence | CTATGAATTAGACCCAGTGCTTTCT T TGAATTATGAAGGTCACACTCCTAC |
| MAF (GnomAD) | 3.80e-02 |
| Splicing prediction (SpliceAI) | AG: 0.00 (13) AL: 0.00 (-14) DG: 0.00 (-26) DL: 0.00 (12) |
 Not found |  Not found | dbSNP rs36082161 |  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 | 6 |
|---|---|
| Asymptomatic | 2 |
| CF | 1 |
| CFTR-RD | 2
|
| Suspicion of CF | 1 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| MUCO07318 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 1134 | 102 |
| MUCO07381 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 9242 | 465 |
| 9777 | CF | Montpellier | 160218_varilh | heterozygous | PASS | 6264 | 630 |
| 6959 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 3895 | 351 |
| m8107 | CFTR-RD | Montpellier | 150419_Altieri | heterozygous | PASS | 5681 | 430 |
| csg182477 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 3987 | 358 |
