catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117252314C/CACACACAG


CFTR-NGS Variant details:
Name NM_000492.4:c.3367+453_3367+454insCACACAGA
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117252315_117252316insCACACAGA    UCSC    
#Exon/intron intron 20
Type in CFTR-NGS catalogue microsatellite
Class in CFTR-France not reported
WT sequence ACACACACACACACACACACACACA -------- GAGTTCCTCTTGTCGGTAAGTTTTG
Mutant sequence ACACACACACACACACACACACACA CACACAGA GAGTTCCTCTTGTCGGTAAGTTTTG


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


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

TOTAL NUMBER OF INDIVIDUALS 2
Asymptomatic 1
CFTR-RD1
  • CFTR-RD  1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m5062AsymptomaticMontpellier230414_varilhheterozygous alleleBias 2997 0
P1CoCFTR-RDMontpellier230414_varilhheterozygous PASS 2997 0





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