catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117227792G/A


CFTR-NGS Variant details:
Name NM_000492.4:c.1585-1G>A
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117227792G>A    UCSC    gnomAD
#Exon/intron intron 11
Legacy Name 1717-1G>A
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass CF-causing
WT sequence CTCTAATTTTCTATTTTTGGTAATA G GACATCTCCAAGTTTGCAGAGAAAG
Mutant sequence CTCTAATTTTCTATTTTTGGTAATA A GACATCTCCAAGTTTGCAGAGAAAG


Additional information:
MAF (GnomAD) 7.68e-05
Splicing prediction (SpliceAI) AG: 0.49 (2)
AL: 0.97 (1)
DG: 0.00 (-7)
DL: 0.00 (1)




External sources:
dbSNP
rs76713772
Not found

Variant validation:
Sanger
(present/not present/not verified)
 Minigene
(effect/no effect/not performed)
presentnot performed



96 individuals carrying this variant are reported in CFTR-France


1 individual (out of 136) carrying this variant is reported in CFTR-NGS catalogue:

TOTAL NUMBER OF INDIVIDUALS 1
Asymptomatic 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m5062AsymptomaticMontpellier230414_varilhheterozygous PASS 4706 423





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