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CFTR-NGS variants catalogue
Variant hg19:chr7:117170393G/C
| Name | NM_000492.4:c.274-560G>C |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117170393G>C UCSC gnomAD |
| #Exon/intron | intron 3 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | CCCATTCCCAGCTCTGCTTTGTGTA G TTGCCTTGAGAAGCTAAGTTCATTC |
| Mutant sequence | CCCATTCCCAGCTCTGCTTTGTGTA C TTGCCTTGAGAAGCTAAGTTCATTC |
| MAF (GnomAD) | 1.40e-05 |
| Splicing prediction (SpliceAI) | AG: 0.00 (-14) AL: 0.00 (1) DG: 0.00 (-40) DL: 0.00 (1) |
 Not found |  Not found | dbSNP rs1247813405 |  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 | 1 |
|---|---|
| Pending (NBS) | 1 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| 6 | Pending (NBS) | Montpellier | 150517_varilh | heterozygous | PASS | 3265 | 335 |
