CFTR-NGS variants catalogue
Name | NM_000492.4:c.54-3950_54-3949delTG |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117140357_117140358del UCSC |
#Exon/intron | intron 1 |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | not reported |
WT sequence | CTTTTTTTTTTTTTTTTTTTTTTTT TG AGACGGAGTTTTGCTCTTGTTGCCC |
Mutant sequence | CTTTTTTTTTTTTTTTTTTTTTTTT -- AGACGGAGTTTTGCTCTTGTTGCCC |
MAF (GnomAD) | - |
Splicing prediction (SpliceAI) | - |
Not found | Not found | dbSNP no rs | Not found |
Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
not verified | not performed |
No patient found in CFTR-NGS |
No patient found in CFTR-France |