catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117243737C/CT


CFTR-NGS Variant details:
Name NM_000492.4:c.2810dupT
Protein name NP_000483.3:p.(Val938Glyfs*37)
Genomic name (hg19) chr7:g.117243738dup    UCSC    
#Exon/intron exon 17
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence TGGGATTCTTCAGAGGTCTACCACT - GGTGCATACTCTAATCACAGTGTCG
Mutant sequence TGGGATTCTTCAGAGGTCTACCACT T GGTGCATACTCTAATCACAGTGTCG


Additional information:
MAF (GnomAD) 6.98e-06
Splicing prediction (SpliceAI) AG: 0.00 (-10)
AL: 0.00 (22)
DG: 0.00 (-9)
DL: 0.00 (2)




External sources:

Not found
Not found		dbSNP
rs193922510
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
CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m6426CFMontpellier230414_varilhheterozygous PASS 8916 638





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