catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117192967G/C


CFTR-NGS Variant details:
Name NM_000492.4:c.1392+4090G>C
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117192967G>C    UCSC    gnomAD
#Exon/intron intron 10
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence TGAAATCCTAATTCCCAAGGTGATG G TATTGCAGGGTGGGGCCTTTGGGAG
Mutant sequence TGAAATCCTAATTCCCAAGGTGATG C TATTGCAGGGTGGGGCCTTTGGGAG


Additional information:
MAF (GnomAD) -
Splicing prediction (SpliceAI) AG: 0.00 (9)
AL: 0.00 (1)
DG: 0.00 (-7)
DL: 0.00 (-1)




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 3



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m6426CFMontpellier230414_varilhheterozygous PASS 6246 551
P1BCFMontpellier230414_varilhheterozygous PASS 4488 408
9886CFMontpellier160218_varilhheterozygous PASS 3575 287





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