CFTR-NGS variants catalogue
Name | NM_000492.4:c.3492dup |
Protein name | NP_000483.3:p.(Lys1165Ter) |
Genomic name (hg19) | chr7:g.117267599dup UCSC |
#Exon/intron | exon 22 |
Legacy Name | K1165X |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | disease-causing |
Subclass | CF-causing |
WT sequence | AGATGCGATCTGTGAGCCGAGTCTT T- AAGTTCATTGACATGCCAACAGAAG |
Mutant sequence | AGATGCGATCTGTGAGCCGAGTCTT TT AAGTTCATTGACATGCCAACAGAAG |
MAF (GnomAD) | - |
Splicing prediction (SpliceAI) | - |
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![]() | dbSNP no rs | ![]() Not found | ![]() |
Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
present | not performed |
No patient found in CFTR-NGS |
No patient found in CFTR-France |