CFTR-NGS variants catalogue
Variant hg19:chr7:117193278G/GAC
Name | NM_000492.4:c.1392+4423_1392+4424dupCA |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117193300_117193301dup UCSC |
#Exon/intron | intron 10 |
Type in CFTR-NGS catalogue | microsatellite |
Class in CFTR-France | not reported |
Patients reported in CFTR-NGS, carrying this variant also carry: |