CFTR-NGS variants catalogue
Name | NM_000492.4:c.4374dup |
Protein name | NP_000483.3:p.(Lys1459Glnfs*3) |
Genomic name (hg19) | chr7:g.117307093dup UCSC |
#Exon/intron | exon 27 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | VUS |
Subclass | VUS3 |
WT sequence | TCCCCACCGGAACTCAAGCAAGTGC - AAGTCTAAGCCCCAGATTGCTGCTC |
Mutant sequence | TCCCCACCGGAACTCAAGCAAGTGC C AAGTCTAAGCCCCAGATTGCTGCTC |
MAF (GnomAD) | - |
Splicing prediction (SpliceAI) | - |
![]() Not found | ![]() Not found | dbSNP no rs | ![]() Not found | ![]() |
Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
present | not performed |