CFTR-NGS variants catalogue
Variant hg19:chr7:117218575G/A
| Name | NM_000492.4:c.1585-9218G>A |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117218575G>A UCSC gnomAD |
| #Exon/intron | intron 11 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | non disease-causing |
| Patients reported in CFTR-NGS, carrying this variant also carry: |