catalog




CFTR-NGS variants catalogue



CFTR-NGS Variant details:
Name NM_000492.4:c.2051_2052delinsG
Protein name NP_000483.3:p.(Lys684Serfs*38)
Genomic name (hg19) chr7:g.117232272_117232273delinsG    UCSC    
#Exon/intron exon 14
Legacy Name 2183AA>G
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass CF-causing
WT sequence CCTGTCTCCTGGACAGAAACAAAAA AA CAATCTTTTAAACAGACTGGAGAGT
Mutant sequence CCTGTCTCCTGGACAGAAACAAAAA G- CAATCTTTTAAACAGACTGGAGAGT


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




External sources:
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

52 individuals reported in CFTR-France







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