catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117303392T/A


CFTR-NGS Variant details:
Name NM_000492.4:c.3964-1350T>A
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117303392T>A    UCSC    gnomAD
#Exon/intron intron 24
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence AGTCTTCGGGGATACATCAGAGTAG T CCCCCTTGTCTAATAAATGTGTTTA
Mutant sequence AGTCTTCGGGGATACATCAGAGTAG A CCCCCTTGTCTAATAAATGTGTTTA


Additional information:
MAF (GnomAD) 3.42e-04
Splicing prediction (SpliceAI) AG: 0.00 (44)
AL: 0.00 (39)
DG: 0.00 (44)
DL: 0.00 (-5)




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 verifiednot performed



No patient found in CFTR-France


3 individuals (out of 136) carrying this variant are reported in CFTR-NGS catalogue:

TOTAL NUMBER OF INDIVIDUALS 3
CF 2
Suspicion of CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
21CFMontpellier150517_varilhheterozygous PASS 4567 393
22CFMontpellier150517_varilhheterozygous PASS 4469 413
csg183926Suspicion of CFMontpellier151220_Altieriheterozygous PASS 1542 160





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