CFTR-NGS variants catalogue
Variant hg19:chr7:117135025G/C
| Name | NM_000492.4:c.54-9282G>C |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117135025G>C UCSC gnomAD |
| #Exon/intron | intron 1 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| Patients reported in CFTR-NGS, carrying this variant also carry: |