catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117250479CAA/CA,C


CFTR-NGS Variant details:
Name NM_000492.4:c.2989-81delA
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117250492del    UCSC    
#Exon/intron intron 18
Type in CFTR-NGS catalogue repeat
Class in CFTR-France not reported
WT sequence GTTTAAAGTATGCAAAAAAAAAAAA A GAAATAAATCACTGACACACTTTGT
Mutant sequence GTTTAAAGTATGCAAAAAAAAAAAA - GAAATAAATCACTGACACACTTTGT


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
Asymptomatic 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m5062AsymptomaticMontpellier230414_varilhheterozygous PASS 6796 406





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