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CFTR-NGS variants catalogue
Variant hg19:chr7:117147016C/T
| Name | NM_000492.4:c.165-2072C>T |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117147016C>T UCSC gnomAD |
| #Exon/intron | intron 2 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | ACCCTGGCTTCACATTTCATAACTG C CTTGTGACCATGGCCCTCAAGTGGT |
| Mutant sequence | ACCCTGGCTTCACATTTCATAACTG T CTTGTGACCATGGCCCTCAAGTGGT |
| MAF (GnomAD) | 4.54e-04 |
| Splicing prediction (SpliceAI) | AG: 0.00 (22) AL: 0.01 (-27) DG: 0.00 (-2) DL: 0.00 (-37) |
 Not found |  Not found | dbSNP rs528089643 |  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 |
|---|---|---|---|---|---|---|---|
| cad190201 | Pending (NBS) | Montpellier | 150419_Altieri | heterozygous | PASS | 3787 | 303 |
