catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117293454G/A


CFTR-NGS Variant details:
Name NM_000492.4:c.3963+469G>A
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117293454G>A    UCSC    gnomAD
#Exon/intron intron 24
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence AAGTCAAAGATCAAGGTGCCAGCAG G TTTGCTGTCTCGTGAGAGCATACTT
Mutant sequence AAGTCAAAGATCAAGGTGCCAGCAG A TTTGCTGTCTCGTGAGAGCATACTT


Additional information:
MAF (GnomAD) 2.79e-05
Splicing prediction (SpliceAI) AG: 0.00 (-11)
AL: 0.00 (-1)
DG: 0.00 (-11)
DL: 0.00 (-1)




External sources:

Not found
Not found		dbSNP
rs112658413
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
CF 2



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m6426CFMontpellier230414_varilhheterozygous PASS 5530 390
P1BCFMontpellier230414_varilhheterozygous PASS 10115 749





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