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: |