catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117282468G/A


CFTR-NGS Variant details:
Name NM_000492.4:c.3718-24G>A
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117282468G>A    UCSC    gnomAD
#Exon/intron intron 22
Type in CFTR-NGS catalogue -
Class in CFTR-France VUS
Subclass VUS3
WT sequence CATGGTACCTATATGTCACAGAAGT G ATCCCATCACTTTTACCTTATAGGT
Mutant sequence CATGGTACCTATATGTCACAGAAGT A ATCCCATCACTTTTACCTTATAGGT


Additional information:
MAF (GnomAD) 2.16e-04
Splicing prediction (SpliceAI) AG: 0.01 (24)
AL: 0.00 (-4)
DG: 0.00 (-3)
DL: 0.00 (23)




External sources:

Not found
Not found		dbSNP
rs374013084
Not found

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



5 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
CFTR-RD1
  • CFTR-RD  1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
9CFTR-RDMontpellier150517_varilhheterozygous PASS 2594 287





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