catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117190066C/T


CFTR-NGS Variant details:
Name NM_000492.4:c.1392+1189C>T
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117190066C>T    UCSC    gnomAD
#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: