CFTR-NGS variants catalogue
Variant hg19:chr7:117176568AGATT/A
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: |