catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117288374A/G


CFTR-NGS Variant details:
Name NM_000492.4:c.3874-4522A>G
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117288374A>G    UCSC    gnomAD
#Exon/intron intron 23
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass varying clinical consequence
WT sequence TTTATTGTTTTTTGTTTGACATCCA A TGCTAAAGCATAATGCCTGTTGCAG
Mutant sequence TTTATTGTTTTTTGTTTGACATCCA G TGCTAAAGCATAATGCCTGTTGCAG


Additional information:
MAF (GnomAD) 3.49e-05
Splicing prediction (SpliceAI) AG: 0.02 (1)
AL: 0.00 (26)
DG: 0.00 (1)
DL: 0.00 (9)




External sources:

Not found
Not found		dbSNP
rs895394181
Not found

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



2 individuals carrying this variant are reported 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
m2369CFMontpellier230414_varilhheterozygous PASS 6437 589
P3CrCFMontpellier230414_varilhheterozygous PASS 9949 726





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