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CFTR-NGS variants catalogue
| Name | NM_000492.4:c.[1585-11881_2490+101dup;2490+87_2490+88insTCAAAATTTACTAAA] |
| Protein name | NP_000483.3:p.? |
| Genomic name (hg19) | chr7:g.[117215912_117232812dup;117232798_117232799insTCAAAATTTACTAAA] UCSC |
| #Exon/intron | intron 11 |
| Legacy Name | CFTRdup11_13 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | disease-causing |
| Subclass | CF-causing |
| WT sequence | AATTTACTAAAATCATAGGATTAGG ----------------------- ATAAGGTGTATCTTAAAACTCAGAA ; GTAGCATGTAACAAAATTTACTAAA --------------- ATCATAGGATTAGGATAAGGTGTAT |
| Mutant sequence | AATTTACTAAAATCATAGGATTAGG GTTCTA [16889bp] ATTAGG ATAAGGTGTATCTTAAAACTCAGAA ; GTAGCATGTAACAAAATTTACTAAA TCAAAATTTACTAAA ATCATAGGATTAGGATAAGGTGTAT |
| MAF (GnomAD) | - |
| Splicing prediction (SpliceAI) | - |
 |  Not found | dbSNP no rs |  Not found |  Not found |
| Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
| present | not performed |
