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CFTR-NGS variants catalogue
Variant hg19:chr7:117227832G/T
| Name | NM_000492.4:c.1624G>T |
| Protein name | NP_000483.3:p.(Gly542*) |
| Genomic name (hg19) | chr7:g.117227832G>T UCSC gnomAD |
| #Exon/intron | exon 12 |
| Legacy Name | G542X |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | disease-causing |
| Subclass | CF-causing |
| WT sequence | TGCAGAGAAAGACAATATAGTTCTT G GAGAAGGTGGAATCACACTGAGTGG |
| Mutant sequence | TGCAGAGAAAGACAATATAGTTCTT T GAGAAGGTGGAATCACACTGAGTGG |
| MAF (GnomAD) | 2.86e-04 |
| Splicing prediction (SpliceAI) | AG: 0.00 (-46) AL: 0.13 (-39) DG: 0.00 (-47) DL: 0.00 (27) |
 |
 | dbSNP no rs |  Not found |  |
| Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
| present | not performed |
226 individuals carrying this variant are reported in CFTR-France |
| TOTAL NUMBER OF INDIVIDUALS | 3 |
|---|---|
| Asymptomatic | 1 |
| CF | 1 |
| CFTR-RD | 1
|
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| MUCO07318 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 740 | 83 |
| 9777 | CF | Montpellier | 160218_varilh | heterozygous | PASS | 4437 | 461 |
| m8107 | CFTR-RD | Montpellier | 150419_Altieri | heterozygous | PASS | 1519 | 218 |
