CFTR-NGS variants catalogue
Name | NM_000492.4:c.3532_3535dup |
Protein name | NP_000483.3:p.(Thr1179IlefsTer17) |
Genomic name (hg19) | chr7:g.117267639_117267642dup UCSC |
#Exon/intron | exon 22 |
Legacy Name | 3667ins4 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | disease-causing |
WT sequence | GCCAACAGAAGGTAAACCTACCAAG TCAA---- CCAAACCATACAAGAATGGCCAACT |
Mutant sequence | GCCAACAGAAGGTAAACCTACCAAG TCAATCAA CCAAACCATACAAGAATGGCCAACT |
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 |