CFTR-NGS variants catalogue
Name | NM_000492.4:c.325_327delinsG |
Protein name | NP_000483.3:p.(Tyr109Glyfs*4) |
Genomic name (hg19) | chr7:g.117171004_117171006delinsG UCSC |
#Exon/intron | exon 4 |
Legacy Name | 457TAT>G |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | disease-causing |
Subclass | CF-causing |
WT sequence | CTTACTGGGAAGAATCATAGCTTCC TAT GACCCGGATAACAAGGAGGAACGCT |
Mutant sequence | CTTACTGGGAAGAATCATAGCTTCC G-- GACCCGGATAACAAGGAGGAACGCT |
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 |