catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117214125T/C


CFTR-NGS Variant details:
Name NM_000492.4:c.1585-13668T>C
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117214125T>C    UCSC    gnomAD
#Exon/intron intron 11
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
Patients reported in CFTR-NGS, carrying this variant also carry: