CFTR-NGS Variant details:
| Name |
NM_000492.4:c.2989-977_3367+248del |
| Protein name |
NP_000483.3:p.(Leu997Glufs*11) |
| Genomic name (hg19) |
chr7:g.117249596_117252110del UCSC |
| #Exon/intron |
intron 18 |
| Legacy Name |
3121-977_3499+248del2515 ; del 17a-17b |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France |
disease-causing |
| Subclass |
CF-causing |
| WT sequence |
GACTTTGTACCTTTTAAAAATGTAT GTATTT [2503bp] ATACAT ATATATATATAGTATTATCCCTGTT |
| Mutant sequence |
GACTTTGTACCTTTTAAAAATGTAT ---------------------- ATATATATATAGTATTATCCCTGTT |
