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CFTR-NGS variants catalogue
Variant hg19:chr7:117146020G/C
| Name | NM_000492.4:c.164+1603G>C |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117146020G>C UCSC gnomAD |
| #Exon/intron | intron 2 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | TATTGAACACTTGGTGTGTGCAAAT G CCATGAGGTAGGGATACTTTGTTTT |
| Mutant sequence | TATTGAACACTTGGTGTGTGCAAAT C CCATGAGGTAGGGATACTTTGTTTT |
| MAF (GnomAD) | 6.87e-03 |
| Splicing prediction (SpliceAI) | AG: 0.00 (12) AL: 0.00 (7) DG: 0.00 (7) DL: 0.00 (-11) |
 Not found |  Not found | dbSNP rs73215906 |  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 | 4920 | 390 |
| 6008 | CFTR-RD | Montpellier | 160218_varilh | heterozygous | PASS | 2619 | 240 |
| 7648 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | PASS | 1755 | 164 |
