catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117252081A/G


CFTR-NGS Variant details:
Name NM_000492.4:c.3367+219A>G
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117252081A>G    UCSC    gnomAD
#Exon/intron intron 20
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence ATCGGATATATATATATATATGTAT A TATATATATATATATATATATATAT
Mutant sequence ATCGGATATATATATATATATGTAT G TATATATATATATATATATATATAT


Additional information:
MAF (GnomAD) 2.35e-02
Splicing prediction (SpliceAI) AG: 0.00 (42)
AL: 0.00 (34)
DG: 0.00 (-5)
DL: 0.00 (35)




External sources:

Not found

Not found
dbSNP
rs868613877

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


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

TOTAL NUMBER OF INDIVIDUALS 4
Asymptomatic 2
CF 2



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m2761AsymptomaticMontpellier230414_varilhheterozygous PASS 378 70
m93AsymptomaticMontpellier230414_varilhheterozygous PASS 531 39
m2760CFMontpellier230414_varilhheterozygous PASS 214 64
P2BCFMontpellier230414_varilhheterozygous PASS 108 27





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