CFTR-NGS variants catalogue
Name | NM_000492.4:c.54-5940_273+10250del |
Protein name | NP_000483.3:p.(Ser18Argfs*16) |
Genomic name (hg19) | chr7:g.117138367_117159446del UCSC |
#Exon/intron | intron 1 |
Legacy Name | CFTRdele2,3 ; Del exon 2-3 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | disease-causing |
Subclass | CF-causing |
WT sequence | TCAAATATACACAAGGCTTGTCTTT AGCGAG [21068bp] CACTTT TACCCTGCCAAAAGCAAAATCTTAA |
Mutant sequence | TCAAATATACACAAGGCTTGTCTTT ----------------------- TACCCTGCCAAAAGCAAAATCTTAA |
MAF (GnomAD) | - |
Splicing prediction (SpliceAI) | - |
dbSNP no rs | Not found | Not found |
Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
present | not performed |