catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117257418A/G


CFTR-NGS Variant details:
Name NM_000492.4:c.3468+2651A>G
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117257418A>G    UCSC    gnomAD
#Exon/intron intron 21
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence CTCTCAACTAATAAAGGTAATGTTT A GATAACATTTAACGTTAAGTTGCAT
Mutant sequence CTCTCAACTAATAAAGGTAATGTTT G GATAACATTTAACGTTAAGTTGCAT


Additional information:
MAF (GnomAD) 1.36e-03
Splicing prediction (SpliceAI) AG: 0.00 (-48)
AL: 0.00 (-42)
DG: 0.00 (-10)
DL: 0.00 (-44)




External sources:

Not found
Not found		dbSNP
rs180836861
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
CFTR-RD1
  • CFTR-RD  1
Pending (NBS) 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
5CFTR-RDMontpellier150517_varilhheterozygous PASS 5300 412
11Pending (NBS)Montpellier150517_varilhheterozygous PASS 4447 368





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