CFTR-NGS variants catalogue
Variant hg19:chr7:117252288T/TACACACACACAC
Name | NM_000492.4:c.3367+442_3367+453dup12 |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117252304_117252315dup UCSC |
#Exon/intron | intron 20 |
Type in CFTR-NGS catalogue | microsatellite |
Class in CFTR-France | not reported |
Patients reported in CFTR-NGS, carrying this variant also carry: |