CFTR-NGS variants catalogue
Name | NM_000492.4:c.2916_2917delinsAT |
Protein name | NP_000483.3:p.(Leu973Phe) |
Genomic name (hg19) | chr7:g.117246735_117246736delinsAT UCSC |
#Exon/intron | exon 18 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | VUS |
WT sequence | TCATCTTGTATATTATAGGTGGGAT TC TTAATAGATTCTCCAAAGATATAGC |
Mutant sequence | TCATCTTGTATATTATAGGTGGGAT AT TTAATAGATTCTCCAAAGATATAGC |
MAF (GnomAD) | - |
Splicing prediction (SpliceAI) | - |
![]() Not found | ![]() Not found | dbSNP no rs | ![]() Not found | ![]() |
Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
present | not performed |