catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117176568AGATT/A


CFTR-NGS Variant details:
Name NM_000492.4:c.744-9_744-6delGATT
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117176593_117176596del    UCSC    
#Exon/intron intron 6
Legacy Name TTGA repeats
Type in CFTR-NGS catalogue repeat
Class in CFTR-France not reported
Patients reported in CFTR-NGS, carrying this variant also carry: