catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117272630GAAAAAGA/G


CFTR-NGS Variant details:
Name NM_000492.4:c.3717+4816_3717+4822del7
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117272640_117272646del    UCSC    
#Exon/intron intron 22
Type in CFTR-NGS catalogue microsatellite
Class in CFTR-France not reported
Patients reported in CFTR-NGS, carrying this variant also carry: