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 |