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CFTR-NGS variants catalogue
Variant hg19:chr7:117250260A/T
| Name | NM_000492.4:c.2989-313A>T |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117250260A>T UCSC gnomAD |
| #Exon/intron | intron 18 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | disease-causing |
| Subclass | varying clinical consequence |
| WT sequence | AACAATGAGATCACATGGACACAGG A AGGGGAATATCACACTCTGGGGACT |
| Mutant sequence | AACAATGAGATCACATGGACACAGG T AGGGGAATATCACACTCTGGGGACT |
| MAF (GnomAD) | - |
| Splicing prediction (SpliceAI) | AG: 0.23 (-35) AL: 0.00 (25) DG: 0.55 (-2) DL: 0.00 (-36) |
 Not found |  Not found | dbSNP rs1584821306 |  Not found |  |
| Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
| present | effect |
6 individuals carrying this variant are reported in CFTR-France |
| TOTAL NUMBER OF INDIVIDUALS | 2 |
|---|---|
| CF | 2 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| m6426 | CF | Montpellier | 230414_varilh | homozygous | PASS | 3506 | 99 |
| P1B | CF | Montpellier | 230414_varilh | heterozygous | PASS | 475 | 48 |
