CFTR-NGS variants catalogue
Name | NM_000492.4:c.3400_3401delinsGTA |
Protein name | NP_000483.3:p.(Thr1134Valfs*22) |
Genomic name (hg19) | chr7:g.117254699_117254700delinsGTA UCSC |
#Exon/intron | exon 21 |
Legacy Name | 3532AC>GTA |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | disease-causing |
Subclass | CF-causing |
WT sequence | AGAAGGAAGAGTTGGTATTATCCTG AC- TTTAGCCATGAATATCATGAGTACA |
Mutant sequence | AGAAGGAAGAGTTGGTATTATCCTG GTA TTTAGCCATGAATATCATGAGTACA |
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 |