catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117188683T/TGTG


CFTR-NGS Variant details:
Name NM_000492.4:c.1210-12_1210-11insGTG
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117188683_117188684insGTG    UCSC    
#Exon/intron intron 9
Legacy Name TG13T6
Type in CFTR-NGS catalogue TG-T
Class in CFTR-France VUS
Subclass VUS3
WT sequence GATGTGTGTGTGTGTGTGTGTGTGT --- TTTTTTAACAGGGATTTGGGGAATT
Mutant sequence GATGTGTGTGTGTGTGTGTGTGTGT GTG TTTTTTAACAGGGATTTGGGGAATT


Additional information:
MAF (GnomAD) 8.81e-05
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 2
CFTR-RD1
  • CFTR-RD  1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m4793AsymptomaticMontpellier230414_varilhheterozygous PASS 6302 462
m5062AsymptomaticMontpellier230414_varilhheterozygous PASS 545 121
6175CFTR-RDMontpellier40216_varilhheterozygous PASS 805 293





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