catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117235196CAT/C


CFTR-NGS Variant details:
Name NM_000492.4:c.2619+86_2619+87delTA
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117235198_117235199del    UCSC    
#Exon/intron intron 15
Type in CFTR-NGS catalogue -
Class in CFTR-France non disease-causing
Patients reported in CFTR-NGS, carrying this variant also carry: