catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117197599TTTGCTTCAAGAATA/T


CFTR-NGS Variant details:
Name NM_000492.4:c.1393-1912_1393-1899del14
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117197606_117197619del    UCSC    
#Exon/intron intron 10
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
Patients reported in CFTR-NGS, carrying this variant also carry: