catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117274242A/G


CFTR-NGS Variant details:
Name NM_000492.4:c.3717+6418A>G
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117274242A>G    UCSC    gnomAD
#Exon/intron intron 22
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence AGATATAGGCCTATTCAGATTACCT A TTTTTTCTCATGCGAGTTTTAGCAG
Mutant sequence AGATATAGGCCTATTCAGATTACCT G TTTTTTCTCATGCGAGTTTTAGCAG


Additional information:
MAF (GnomAD) 1.82e-04
Splicing prediction (SpliceAI) AG: 0.00 (-45)
AL: 0.00 (17)
DG: 0.00 (-46)
DL: 0.00 (-33)




External sources:

Not found
Not found		dbSNP
rs777070760
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
Asymptomatic 1
Suspicion of CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m9947AsymptomaticMontpellier150419_Altieriheterozygous PASS 1388 154
m10080Suspicion of CFMontpellier150419_Altieriheterozygous PASS 1373 158





Go to CFTRare
VLMCHUUM