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CFTR-NGS variants catalogue
| Name | NM_000492.4:c.2249C>T |
| Protein name | NP_000483.3:p.(Pro750Leu) |
| Genomic name (hg19) | chr7:g.117232470C>T UCSC gnomAD |
| #Exon/intron | exon 14 |
| Legacy Name | P750L |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | disease-causing |
| Subclass | CFTR-RD-causing |
| WT sequence | TCTGAGCAGGGAGAGGCGATACTGC C TCGCATCAGCGTGATCAGCACTGGC |
| Mutant sequence | TCTGAGCAGGGAGAGGCGATACTGC T TCGCATCAGCGTGATCAGCACTGGC |
| MAF (GnomAD) | - |
| Splicing prediction (SpliceAI) | - |
 |
 | dbSNP no rs |
 |  |
| Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
| present | not performed |
| Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
No patient found in CFTR-NGS |
8 individuals reported in CFTR-France |
