catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117198607C/CTAAATAAATAAA


CFTR-NGS Variant details:
Name NM_000492.4:c.1393-886_1393-875dup12
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117198632_117198643dup    UCSC    
#Exon/intron intron 10
Type in CFTR-NGS catalogue microsatellite
Class in CFTR-France not reported
WT sequence ATAAATAAATAAATAAATAAATAAA ------------ ATCAGTGCTTTTTCTTCCTCTGCTA
Mutant sequence ATAAATAAATAAATAAATAAATAAA TAAATAAATAAA ATCAGTGCTTTTTCTTCCTCTGCTA


Additional information:
MAF (GnomAD) 2.74e-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


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

TOTAL NUMBER OF INDIVIDUALS 6
Asymptomatic 2
CF 3
CFTR-RD1
  • CFTR-RD  1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
MUCO07299AsymptomaticMontpellier100714_varilhheterozygous PASS 709 36
MUCO07300AsymptomaticMontpellier100714_varilhheterozygous PASS 483 11
21CFMontpellier150517_varilhheterozygous PASS 1231 65
22CFMontpellier150517_varilhheterozygous PASS 1069 51
9777CFMontpellier160218_varilhheterozygous PASS 1069 51
6959CFTR-RDMontpellier40216_varilhheterozygous PASS 220 12





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