catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117252288T/TACACAC,TACACACAC


CFTR-NGS Variant details:
Name NM_000492.4:c.3367+448_3367+453dup6
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117252310_117252315dup    UCSC    
#Exon/intron intron 20
Type in CFTR-NGS catalogue microsatellite
Class in CFTR-France not reported
WT sequence ACACACACACACACACACACACACA ------ GAGTTCCTCTTGTCGGTAAGTTTTG
Mutant sequence ACACACACACACACACACACACACA CACACA GAGTTCCTCTTGTCGGTAAGTTTTG


Additional information:
MAF (GnomAD) -
Splicing prediction (SpliceAI) -




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


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

TOTAL NUMBER OF INDIVIDUALS 7
Asymptomatic 3
CF 2
CFTR-RD2
  • CFTR-RD  2



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m5062AsymptomaticMontpellier230414_varilhheterozygous PASS 3824 237
MUCO07319AsymptomaticMontpellier100714_varilhheterozygous PASS 955 25
MUCO07358AsymptomaticMontpellier100714_varilhheterozygous alleleBias 150 0
m6426CFMontpellier230414_varilhheterozygous PASS 3962 213
P1BCFMontpellier230414_varilhheterozygous PASS 3299 127
P1CoCFTR-RDMontpellier230414_varilhheterozygous PASS 3635 186
3357CFTR-RDMontpellier40216_varilhheterozygous PASS 611 58





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