catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117231852T/C


CFTR-NGS Variant details:
Name NM_000492.4:c.1767-136T>C
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117231852T>C    UCSC    gnomAD
#Exon/intron intron 13
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
Patients reported in CFTR-NGS, carrying this variant also carry: