catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117188683T/TG


CFTR-NGS Variant details:
Name NM_000492.4:c.1210-12_1210-11insG
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117188683_117188684insG    UCSC    
#Exon/intron intron 9
Legacy Name TG12T6
Type in CFTR-NGS catalogue TG-T
Class in CFTR-France VUS
Subclass VUS3
WT sequence GATGTGTGTGTGTGTGTGTGTGTGT - TTTTTTAACAGGGATTTGGGGAATT
Mutant sequence GATGTGTGTGTGTGTGTGTGTGTGT G TTTTTTAACAGGGATTTGGGGAATT


Additional information:
MAF (GnomAD) 1.22e-03
Splicing prediction (SpliceAI) AG: 0.00 (33)
AL: 0.03 (12)
DG: 0.00 (12)
DL: 0.00 (-18)




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


1 individual (out of 136) carrying this variant is reported in CFTR-NGS catalogue:

TOTAL NUMBER OF INDIVIDUALS 1
Suspicion of CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
cad190204Suspicion of CFMontpellier150419_Altieriheterozygous PASS 896 134





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