catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117158623CAT/CATAT,C


CFTR-NGS Variant details:
Name NM_000492.4:c.273+9446_273+9447dupAT
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117158642_117158643dup    UCSC    
#Exon/intron intron 3
Type in CFTR-NGS catalogue microsatellite
Class in CFTR-France not reported
WT sequence AAAACATATATATATATATATATAT -- GTGTGTTTTCTGCCTTTCATTTTTA
Mutant sequence AAAACATATATATATATATATATAT AT GTGTGTTTTCTGCCTTTCATTTTTA


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


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

TOTAL NUMBER OF INDIVIDUALS 9
Asymptomatic 2
CF 1
CFTR-RD1
  • CFTR-RD  1
Suspicion of CF 5



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
MUCO07358AsymptomaticMontpellier100714_varilhheterozygous PASS 327 27
MUCO07658AsymptomaticMontpellier100714_varilhheterozygous PASS 111 29
P3CrCFMontpellier230414_varilhheterozygous PASS 809 112
MUC10197CFTR-RDCochin150419_Altieriheterozygous PASS 396 96
m1552Suspicion of CFMontpellier230414_varilhheterozygous PASS 489 148
P1CrSuspicion of CFMontpellier230414_varilhheterozygous PASS 379 81
7015Suspicion of CFMontpellier40216_varilhheterozygous PASS 149 49
cad200366Suspicion of CFMontpellier151220_Altieriheterozygous PASS 462 41
m4857Suspicion of CFMontpellier151220_Altieriheterozygous LowVariantFreq 1320 99





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