CFTR-NGS variants catalogue
Name | NM_000492.4:c.4071del |
Protein name | NP_000483.3:p.(Arg1358Aspfs*22) |
Genomic name (hg19) | chr7:g.117304849del UCSC |
#Exon/intron | exon 25 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | disease-causing |
Subclass | CF-causing |
WT sequence | GCCACAAGCAGTTGATGTGCTTGGC T AGATCTGTTCTCAGTAAGGCGAAGA |
Mutant sequence | GCCACAAGCAGTTGATGTGCTTGGC - AGATCTGTTCTCAGTAAGGCGAAGA |
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 |