catalog




CFTR-NGS variants catalogue



CFTR-NGS Variant details:
Name NM_000492.4:c.4251del
Protein name NP_000483.3:p.(Glu1418Argfs*14)
Genomic name (hg19) chr7:g.117306970del    UCSC    
#Exon/intron exon 27
Legacy Name 4382delA
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass CF-causing
WT sequence AACAGCCATTTCCCTAGGTCATAGA A GAGAACAAAGTGCGGCAGTACGATT
Mutant sequence AACAGCCATTTCCCTAGGTCATAGA - GAGAACAAAGTGCGGCAGTACGATT


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

6 individuals reported in CFTR-France







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VLMCHUUM