CFTR-NGS variants catalogue
Variant hg19:chr7:117154998A/C
Name | NM_000492.4:c.273+5802A>C |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117154998A>C UCSC gnomAD |
#Exon/intron | intron 3 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
Patients reported in CFTR-NGS, carrying this variant also carry: |