CFTR-NGS variants catalogue
Name | NM_000492.4:c.1616_1617dup |
Protein name | NP_000483.3:p.(Val540*) |
Genomic name (hg19) | chr7:g.117227824_117227825dup UCSC |
#Exon/intron | exon 12 |
Legacy Name | 1749insTA |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | disease-causing |
Subclass | CF-causing |
WT sequence | CAAGTTTGCAGAGAAAGACAATATA -- GTTCTTGGAGAAGGTGGAATCACAC |
Mutant sequence | CAAGTTTGCAGAGAAAGACAATATA TA GTTCTTGGAGAAGGTGGAATCACAC |
MAF (GnomAD) | - |
Splicing prediction (SpliceAI) | - |
dbSNP no rs | Not found |
Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
present | not performed |