catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117280963C/T


CFTR-NGS Variant details:
Name NM_000492.4:c.3718-1529C>T
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117280963C>T    UCSC    gnomAD
#Exon/intron intron 22
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence AATTCAAATAAATATTTATGGGGCA C TTTGGGTAAGCCAGGTGCTAAGAAT
Mutant sequence AATTCAAATAAATATTTATGGGGCA T TTTGGGTAAGCCAGGTGCTAAGAAT


Additional information:
MAF (GnomAD) 6.00e-04
Splicing prediction (SpliceAI) AG: 0.00 (5)
AL: 0.00 (1)
DG: 0.00 (-29)
DL: 0.00 (5)




External sources:

Not found
Not found		dbSNP
rs139782821
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 3



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m6426CFMontpellier230414_varilhheterozygous PASS 5383 385
P1BCFMontpellier230414_varilhheterozygous PASS 1448 145
9886CFMontpellier160218_varilhheterozygous PASS 3834 297





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