catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117194217A/G


CFTR-NGS Variant details:
Name NM_000492.4:c.1393-5301A>G
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117194217A>G    UCSC    gnomAD
#Exon/intron intron 10
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence GGCTAATGTTTTTAGGCTATTCTGT A GGGAGACAAGGGAGGAAGCAAGGAG
Mutant sequence GGCTAATGTTTTTAGGCTATTCTGT G GGGAGACAAGGGAGGAAGCAAGGAG


Additional information:
MAF (GnomAD) 3.21e-04
Splicing prediction (SpliceAI) AG: 0.00 (-10)
AL: 0.00 (2)
DG: 0.00 (-42)
DL: 0.00 (24)




External sources:

Not found
Not found		dbSNP
rs774838972
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
CFTR-RD1
  • CFTR-RD  1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
MUCO07407AsymptomaticMontpellier100714_varilhheterozygous PASS 1488 145
P1CoCFTR-RDMontpellier230414_varilhheterozygous PASS 8118 801





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