catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117244224TTCTA/T


CFTR-NGS Variant details:
Name NM_000492.4:c.2908+390_2908+393delCTAT
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117244226_117244229del    UCSC    
#Exon/intron intron 17
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence AGTGATCAAGGAAAATATATTTTTT CTAT TGATTAAGTCTTTTGATGGGGTAGA
Mutant sequence AGTGATCAAGGAAAATATATTTTTT ---- TGATTAAGTCTTTTGATGGGGTAGA


Additional information:
MAF (GnomAD) 4.98e-02
Splicing prediction (SpliceAI) AG: 0.00 (-7)
AL: 0.00 (14)
DG: 0.00 (25)
DL: 0.00 (45)




External sources:

Not found

Not found
dbSNP
rs10604610

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
Suspicion of CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
MUCO07358AsymptomaticMontpellier100714_varilhheterozygous PASS 2331 73
cad200291Suspicion of CFMontpellier151220_Altieriheterozygous PASS 6157 235





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