catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117174357GATAAAATA/C


CFTR-NGS Variant details:
Name NM_000492.4:c.519_526del8
Protein name NP_000483.3:p.(Asp173Glufs*7)
Genomic name (hg19) chr7:g.117174359_117174366del    UCSC    
#Exon/intron exon 5
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence TAAAGCTGTCAAGCCGTGTTCTAGA TAAAATAA GTATTGGACAACTTGTTAGTCTCCT
Mutant sequence TAAAGCTGTCAAGCCGTGTTCTAGA -------- GTATTGGACAACTTGTTAGTCTCCT


Additional information:
MAF (GnomAD) -
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
CFTR-RD1
  • CFTR-RD  1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
3641CFTR-RDMontpellier40216_varilhheterozygous alleleBias 77 0





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