catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117130366T/TACACACACAC


CFTR-NGS Variant details:
Name NM_000492.4:c.53+10199_53+10208dup10
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117130400_117130409dup    UCSC    
#Exon/intron intron 1
Type in CFTR-NGS catalogue microsatellite
Class in CFTR-France not reported
WT sequence ACACACACACACACACACACACACA ---------- ATTTATTATAAGGAATTGACTTACA
Mutant sequence ACACACACACACACACACACACACA CACACACACA ATTTATTATAAGGAATTGACTTACA


Additional information:
MAF (GnomAD) 3.45e-02
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
Pending (NBS) 2



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
12Pending (NBS)Montpellier150517_varilhheterozygous PASS 3909 296
m8584Pending (NBS)Montpellier150419_Altieriheterozygous PASS 483 90





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