catalog




CFTR-NGS variants catalogue



CFTR-NGS Variant details:
Name NM_000492.4:c.3371_3373del
Protein name NP_000483.3:p.(Glu1124del)
Genomic name (hg19) chr7:g.117254670_117254672del    UCSC    
#Exon/intron exon 21
Legacy Name E1123del
Type in CFTR-NGS catalogue -
Class in CFTR-France VUS
Subclass VUS3
WT sequence TACGTCTTTTGTGCATCTATAGGAG AAG GAGAAGGAAGAGTTGGTATTATCCT
Mutant sequence TACGTCTTTTGTGCATCTATAGGAG --- GAGAAGGAAGAGTTGGTATTATCCT


Additional information:
MAF (GnomAD) -
Splicing prediction (SpliceAI) -




External sources:

Not found		dbSNP
no rs
Not found

Variant validation:
Sanger
(present/not present/not verified)
 Minigene
(effect/no effect/not performed)
presentnot performed


No patient found in CFTR-NGS

2 individuals reported in CFTR-France







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