catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117176738C/T


CFTR-NGS Variant details:
Name NM_000492.4:c.869+11C>T
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117176738C>T    UCSC    gnomAD
#Exon/intron intron 7
Legacy Name 1001+11C/T
Type in CFTR-NGS catalogue -
Class in CFTR-France non disease-causing
Patients reported in CFTR-NGS, carrying this variant also carry: