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CFTR-NGS variants catalogue
Variant hg19:chr7:117189107T/C
| Name | NM_000492.4:c.1392+230T>C |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117189107T>C UCSC gnomAD |
| #Exon/intron | intron 10 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | CTTTTTCTTCCACATCTTTATATTT T GCACCACATTCAACACTGTATCTTG |
| Mutant sequence | CTTTTTCTTCCACATCTTTATATTT C GCACCACATTCAACACTGTATCTTG |
| MAF (GnomAD) | 1.64e-04 |
| Splicing prediction (SpliceAI) | AG: 0.00 (-28) AL: 0.00 (8) DG: 0.00 (31) DL: 0.00 (-7) |
 Not found |  Not found | dbSNP rs201590060 |  Not found |  |
| Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
| not verified | not performed |
No patient found in CFTR-NGS |
No patient found in CFTR-France |
