CFTR-NGS variants catalogue
Variant hg19:chr7:117146393T/C
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: |