catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117136953G/GT


CFTR-NGS Variant details:
Name NM_000492.4:c.54-7344dupT
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117136963dup    UCSC    
#Exon/intron intron 1
Type in CFTR-NGS catalogue repeat
Class in CFTR-France not reported
WT sequence GTATTTCATTGTGAGTTTTTTTTTT - CTTTTTCTTTTTTTCTTTTTTTGCT
Mutant sequence GTATTTCATTGTGAGTTTTTTTTTT T CTTTTTCTTTTTTTCTTTTTTTGCT


Additional information:
MAF (GnomAD) 7.67e-03
Splicing prediction (SpliceAI) AG: 0.00 (-36)
AL: 0.00 (-16)
DG: 0.00 (-5)
DL: 0.00 (-36)




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


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

TOTAL NUMBER OF INDIVIDUALS 2
Asymptomatic 1
Suspicion of CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m2761AsymptomaticMontpellier230414_varilhheterozygous PASS 5378 289
P6CrSuspicion of CFMontpellier230414_varilhheterozygous PASS 2009 358





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