catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117141801C/CAAA


CFTR-NGS Variant details:
Name NM_000492.4:c.54-2484_54-2482dupAAA
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117141823_117141825dup    UCSC    
#Exon/intron intron 1
Type in CFTR-NGS catalogue repeat
Class in CFTR-France not reported
WT sequence CAAAAAAAAAAAAAAAAAAAAAAAA --- GAAACAAAAAAAAAAAAAAAACAAA
Mutant sequence CAAAAAAAAAAAAAAAAAAAAAAAA AAA GAAACAAAAAAAAAAAAAAAACAAA


Additional information:
MAF (GnomAD) 6.55e-04
Splicing prediction (SpliceAI) -




External sources:

Not found
Not found		dbSNP
no rs
Not found

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



No patient found in CFTR-France


2 individuals (out of 136) carrying this variant are reported in CFTR-NGS catalogue:

TOTAL NUMBER OF INDIVIDUALS 2
Suspicion of CF 2



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
P4CrSuspicion of CFMontpellier230414_varilhheterozygous PASS 10061 56
P6CrSuspicion of CFMontpellier230414_varilhheterozygous PASS 453 28





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