CFTR-NGS Variant details:
| 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 |
