catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117252089A/ATG


CFTR-NGS Variant details:
Name NM_000492.4:c.3367+228_3367+229insGT
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117252090_117252091insGT    UCSC    
#Exon/intron intron 20
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence TATATATATATGTATATATATATAT -- ATATATATATATATATACATATATA
Mutant sequence TATATATATATGTATATATATATAT GT ATATATATATATATATACATATATA


Additional information:
MAF (GnomAD) 3.21e-04
Splicing prediction (SpliceAI) -




External sources:

Not found
Not found		dbSNP
rs1389547129
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
P1CrSuspicion of CFMontpellier230414_varilhheterozygous PASS 355 42





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