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CFTR-NGS variants catalogue
| Name | NM_000492.4:c.2353C>T |
| Protein name | NP_000483.3:p.(Arg785*) |
| Genomic name (hg19) | chr7:g.117232574C>T UCSC gnomAD |
| #Exon/intron | exon 14 |
| Legacy Name | R785X |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | disease-causing |
| Subclass | CF-causing |
| WT sequence | AGTTAACCAAGGTCAGAACATTCAC C GAAAGACAACAGCATCCACACGAAA |
| Mutant sequence | AGTTAACCAAGGTCAGAACATTCAC T GAAAGACAACAGCATCCACACGAAA |
| MAF (GnomAD) | - |
| Splicing prediction (SpliceAI) | - |
 |
 | dbSNP no rs |  Not found |  |
| Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
| present | not performed |
