catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117139483C/CTGTGTGTG


CFTR-NGS Variant details:
Name NM_000492.4:c.54-4798_54-4791dup8
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117139509_117139516dup    UCSC    
#Exon/intron intron 1
Type in CFTR-NGS catalogue microsatellite
Class in CFTR-France not reported
WT sequence TGTGTGTGTGTGTGTGTGTGTGTGT -------- TTAAAAAATCAAGTGATAGGGCTTT
Mutant sequence TGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT TTAAAAAATCAAGTGATAGGGCTTT


Additional information:
MAF (GnomAD) 2.56e-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


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

TOTAL NUMBER OF INDIVIDUALS 5
Asymptomatic 2
CF 2
Suspicion of CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
MUCO07318AsymptomaticMontpellier100714_varilhhomozygous PASS 1090 0
9005AsymptomaticMontpellier40216_varilhheterozygous alleleBias 302 0
21CFMontpellier150517_varilhheterozygous PASS 1653 122
22CFMontpellier150517_varilhheterozygous PASS 1380 121
m9196Suspicion of CFMontpellier150419_Altieriheterozygous PASS 354 48





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