catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117183413C/T


CFTR-NGS Variant details:
Name NM_000492.4:c.1209+1251C>T
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117183413C>T    UCSC    gnomAD
#Exon/intron intron 9
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence TGATTTTAGGAATTTCAAGTGTCTT C GTCGGCATGAAGGAAAAATATGCAG
Mutant sequence TGATTTTAGGAATTTCAAGTGTCTT T GTCGGCATGAAGGAAAAATATGCAG


Additional information:
MAF (GnomAD) 4.29e-03
Splicing prediction (SpliceAI) AG: 0.00 (-30)
AL: 0.04 (-16)
DG: 0.00 (-47)
DL: 0.12 (49)




External sources:

Not found
Not found		dbSNP
rs114276290
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
Suspicion of CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
6959CFTR-RDMontpellier40216_varilhheterozygous PASS 4574 391
P4CrSuspicion of CFMontpellier230414_varilhheterozygous PASS 9533 699





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