catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117196635G/A


CFTR-NGS Variant details:
Name NM_000492.4:c.1393-2883G>A
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117196635G>A    UCSC    gnomAD
#Exon/intron intron 10
Type in CFTR-NGS catalogue artefact
Class in CFTR-France not reported
WT sequence GTCGCCCAGGCTGGAGTGCAGTGGC G GGATCTCGGCTCACTGCAAGCTCCG
Mutant sequence GTCGCCCAGGCTGGAGTGCAGTGGC A GGATCTCGGCTCACTGCAAGCTCCG


Additional information:
MAF (GnomAD) 1.14e-04
Splicing prediction (SpliceAI) AG: 0.00 (-40)
AL: 0.00 (-16)
DG: 0.00 (-42)
DL: 0.00 (33)




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 present not 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
Suspicion of CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
P1CrSuspicion of CFMontpellier230414_varilhheterozygous PASS 507 31





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