catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117133666C/T


CFTR-NGS Variant details:
Name NM_000492.4:c.54-10641C>T
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117133666C>T    UCSC    gnomAD
#Exon/intron intron 1
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence TAAAGCTTGAAGAAAATGAAAGTAG C GTTAGTATTGGTCCTCAAACTCAAG
Mutant sequence TAAAGCTTGAAGAAAATGAAAGTAG T GTTAGTATTGGTCCTCAAACTCAAG


Additional information:
MAF (GnomAD) 1.40e-05
Splicing prediction (SpliceAI) AG: 0.00 (-2)
AL: 0.00 (-31)
DG: 0.00 (-33)
DL: 0.00 (0)




External sources:

Not found

Not found
dbSNP
rs778909328

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
Asymptomatic 2



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m4793AsymptomaticMontpellier230414_varilhheterozygous PASS 4866 406
m5062AsymptomaticMontpellier230414_varilhheterozygous PASS 5329 416





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