CFTR-NGS variants catalogue
Name | NM_000492.4:c.[165-291_1585-8528delins39;2619+2288_2989-839delins16] |
Protein name | NP_000483.3:p.? |
Genomic name (hg19) | chr7:g.[117148797_117219265delins39;117237400_117249734delins16] UCSC |
#Exon/intron | intron 2 |
Legacy Name | CFTRdele3-10,14b-16 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | disease-causing |
Subclass | CF-causing |
WT sequence | CATTCGTAAAAGCCTTACTTTATTT GTCCAC [70457bp] AAGTAT ATAAAATAAGATCTGGATGAATAGA; CACTGCAAGGGTCCTTGGCTTCATT CTCGAA [12323bp] GAATCA AAAGACTCCAAGACGAATGCCCAGC |
Mutant sequence | CATTCGTAAAAGCCTTACTTTATTT 39--------------------- ATAAAATAAGATCTGGATGAATAGA; CACTGCAAGGGTCCTTGGCTTCATT 16--------------------- AAAGACTCCAAGACGAATGCCCAGC |
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 |