catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117289331G/GGT


CFTR-NGS Variant details:
Name NM_000492.4:c.3874-3565_3874-3564insGT
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117289331_117289332insGT    UCSC    
#Exon/intron intron 23
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence ACATTTTAATAGAATTATACATGGG -- ATGTGTGTGTGTGTGTGTGTGTGTG
Mutant sequence ACATTTTAATAGAATTATACATGGG GT ATGTGTGTGTGTGTGTGTGTGTGTG


Additional information:
MAF (GnomAD) 8.80e-03
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


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
P7CrSuspicion of CFMontpellier230414_varilhheterozygous LowVariantFreq 686 369





Go to CFTRare
VLMCHUUM