catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117278790CATAA/C


CFTR-NGS Variant details:
Name NM_000492.4:c.3718-3673_3718-3670delATAA
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117278819_117278822del    UCSC    
#Exon/intron intron 22
Type in CFTR-NGS catalogue microsatellite
Class in CFTR-France not reported
WT sequence AATAAATAAATAAATAAATAAATAA ATAA TAAAAATAAAAAAATAAAATAAAAC
Mutant sequence AATAAATAAATAAATAAATAAATAA ---- TAAAAATAAAAAAATAAAATAAAAC


Additional information:
MAF (GnomAD) 2.94e-05
Splicing prediction (SpliceAI) AG: 0.00 (36)
AL: 0.00 (9)
DG: 0.00 (16)
DL: 0.00 (-24)




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
Suspicion of CF 2



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m1552Suspicion of CFMontpellier230414_varilhheterozygous alleleBias 530 0
m4959Suspicion of CFMontpellier151220_Altieriheterozygous PASS 1429 76





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