catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117122901C/T


CFTR-NGS Variant details:
Name NM_000492.4:c.3874-4797_3874-4796dupCA
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117288099_117288100dup    UCSC    
#Exon/intron intron 23
Type in CFTR-NGS catalogue microsatellite
Class in CFTR-France not reported
WT sequence GTGTATATATATATACACACACACA -- TTATTTATATATATGTATATATGTA
Mutant sequence GTGTATATATATATACACACACACA CA TTATTTATATATATGTATATATGTA


Additional information:
MAF (GnomAD) 2.15e-02
Splicing prediction (SpliceAI) AG: 0.00 (46)
AL: 0.00 (-30)
DG: 0.00 (46)
DL: 0.00 (23)




External sources:

Not found
Not found		dbSNP
rs151305969
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


1 individual (out of 136) carrying this variant is reported in CFTR-NGS catalogue:

TOTAL NUMBER OF INDIVIDUALS 1
Asymptomatic 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m9946AsymptomaticMontpellier150419_Altieriheterozygous PASS 2090 133





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