catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117302681CA/C


CFTR-NGS Variant details:
Name NM_000492.4:c.3964-2060delA
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117302682del    UCSC    
#Exon/intron intron 24
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence GGAGAACTACCATAGGATTTAAAAC A GAAATGATATGGTCAAACCTACATC
Mutant sequence GGAGAACTACCATAGGATTTAAAAC - GAAATGATATGGTCAAACCTACATC


Additional information:
MAF (GnomAD) 2.68e-02
Splicing prediction (SpliceAI) AG: 0.00 (-26)
AL: 0.00 (3)
DG: 0.00 (49)
DL: 0.00 (12)





External sources:

Not found
Not found		dbSNP
rs67726000
Not found
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
cad200366Suspicion of CFMontpellier151220_Altieriheterozygous PASS 2269 159





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