catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117278790C/CATAAATAAATAA


CFTR-NGS Variant details:
Name NM_000492.4:c.3718-3681_3718-3670dup12
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117278811_117278822dup    UCSC    
#Exon/intron intron 22
Type in CFTR-NGS catalogue microsatellite
Class in CFTR-France not reported
WT sequence AATAAATAAATAAATAAATAAATAA ------------ TAAAAATAAAAAAATAAAATAAAAC
Mutant sequence AATAAATAAATAAATAAATAAATAA ATAAATAAATAA TAAAAATAAAAAAATAAAATAAAAC


Additional information:
MAF (GnomAD) 4.66e-02
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


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
m5062AsymptomaticMontpellier230414_varilhheterozygous PASS 2472 173
9CFTR-RDMontpellier150517_varilhheterozygous PASS 4503 470





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