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CFTR-NGS variants catalogue


Variant hg19:chr7:117223696CTT/C,CT


CFTR-NGS Variant details:
Name NM_000492.4:c.1585-4087_1585-4086delTT
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117223706_117223707del    UCSC    
#Exon/intron intron 11
Type in CFTR-NGS catalogue repeat
Class in CFTR-France not reported
WT sequence GTAAACATGAGTGTGCTTTTTTTTT TT CCATATAATGACTTCTTTTCCTTTG
Mutant sequence GTAAACATGAGTGTGCTTTTTTTTT -- CCATATAATGACTTCTTTTCCTTTG


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


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

TOTAL NUMBER OF INDIVIDUALS 3
Asymptomatic 1
CF 1
CFTR-RD1
  • CFTR-RD  1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m5062AsymptomaticMontpellier230414_varilhheterozygous PASS 9019 439
m1558CFMontpellier230414_varilhheterozygous PASS 3318 168
P1CoCFTR-RDMontpellier230414_varilhheterozygous PASS 13364 635





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