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CFTR-NGS variants catalogue
Variant hg19:chr7:117188420A/G
| Name | NM_000492.4:c.1210-275A>G |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117188420A>G UCSC gnomAD |
| #Exon/intron | intron 9 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | TGTGTGTGTGTGTGTGTGTGTGTGT A TGTGTATGTATACATGTATGTATTC |
| Mutant sequence | TGTGTGTGTGTGTGTGTGTGTGTGT G TGTGTATGTATACATGTATGTATTC |
| MAF (GnomAD) | 1.32e-03 |
| Splicing prediction (SpliceAI) | AG: 0.00 (-41) AL: 0.00 (-9) DG: 0.00 (3) DL: 0.00 (15) |
 Not found |  Not found | dbSNP rs201135955 |  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 | 7 |
|---|---|
| Asymptomatic | 2 |
| CF | 2 |
| CFTR-RD | 1
|
| Suspicion of CF | 2 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| MUCO07381 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | alleleBias | 163 | 0 |
| 9881 | Asymptomatic | Montpellier | 160218_varilh | heterozygous | LowVariantFreq | 37 | 27 |
| m2369 | CF | Montpellier | 230414_varilh | heterozygous | alleleBias | 226 | 0 |
| m2760 | CF | Montpellier | 230414_varilh | heterozygous | alleleBias | 897 | 0 |
| 6959 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 138 | 0 |
| cad200370 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 187 | 34 |
| m4959 | Suspicion of CF | Montpellier | 151220_Altieri | heterozygous | PASS | 355 | 97 |
