catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117146393T/C


CFTR-NGS Variant details:
Name NM_000492.4:c.164+1976T>C
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117146393T>C    UCSC    gnomAD
#Exon/intron intron 2
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
Patients reported in CFTR-NGS, carrying this variant also carry: