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CFTR-NGS variants catalogue
Variant hg19:chr7:117188736C/A
| Name | NM_000492.4:c.1251C>A |
| Protein name | NP_000483.3:p.(Asn417Lys) |
| Genomic name (hg19) | chr7:g.117188736C>A UCSC gnomAD |
| #Exon/intron | exon 10 |
| Legacy Name | N417K |
| Type in CFTR-NGS catalogue | artefact |
| Class in CFTR-France | not reported |
| Patients reported in CFTR-NGS, carrying this variant also carry: |