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CFTR-NGS variants catalogue
Variant hg19:chr7:117144067A/G
| Name | NM_000492.4:c.54-240A>G |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117144067A>G UCSC gnomAD |
| #Exon/intron | intron 1 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | TTTTTTCCCTGGGAAAAACCATACT A TTATTCCCTCCCAATCCCTTTGACA |
| Mutant sequence | TTTTTTCCCTGGGAAAAACCATACT G TTATTCCCTCCCAATCCCTTTGACA |
| MAF (GnomAD) | 8.60e-03 |
| Splicing prediction (SpliceAI) | AG: 0.00 (44) AL: 0.00 (29) DG: 0.00 (-1) DL: 0.00 (-3) |
 Not found |  Not found | dbSNP rs73215905 |  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 |
|---|---|
| CF | 1 |
| CFTR-RD | 1
|
| Suspicion of CF | 1 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| 9883 | CF | Montpellier | 160218_varilh | heterozygous | PASS | 3066 | 270 |
| 6008 | CFTR-RD | Montpellier | 160218_varilh | homozygous | PASS | 6175 | 204 |
| 7648 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | PASS | 1221 | 151 |
