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CFTR-NGS variants catalogue
Variant hg19:chr7:117248234T/G
| Name | NM_000492.4:c.2988+1427T>G |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117248234T>G UCSC gnomAD |
| #Exon/intron | intron 18 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| Patients reported in CFTR-NGS, carrying this variant also carry: |