CFTR-NGS variants catalogue
Variant hg19:chr7:117188850G/T
Name | NM_000492.4:c.1365G>T |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117188850G>T UCSC gnomAD |
#Exon/intron | exon 10 |
Type in CFTR-NGS catalogue | artefact |
Class in CFTR-France | not reported |
Patients reported in CFTR-NGS, carrying this variant also carry: |