catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117277113T/C


CFTR-NGS Variant details:
Name NM_000492.4:c.3718-5379T>C
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117277113T>C    UCSC    gnomAD
#Exon/intron intron 22
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence CTTGAACTCCTAACCTCAAGTGATC T GCCCACCTTAGCCTCCCAAATTGCT
Mutant sequence CTTGAACTCCTAACCTCAAGTGATC C GCCCACCTTAGCCTCCCAAATTGCT


Additional information:
MAF (GnomAD) -
Splicing prediction (SpliceAI) AG: 0.00 (-31)
AL: 0.00 (12)
DG: 0.00 (35)
DL: 0.00 (-7)




External sources:

Not found

Not found
dbSNP
no rs

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


6 individuals (out of 136) carrying this variant are reported in CFTR-NGS catalogue:

TOTAL NUMBER OF INDIVIDUALS 6
Asymptomatic 3
CF 2
Suspicion of CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m4793AsymptomaticMontpellier230414_varilhheterozygous alleleBias 943 0
m5062AsymptomaticMontpellier230414_varilhheterozygous alleleBias 1426 0
m93AsymptomaticMontpellier230414_varilhheterozygous alleleBias 262 84
m2369CFMontpellier230414_varilhheterozygous alleleBias 1914 0
m6426CFMontpellier230414_varilhheterozygous alleleBias 768 0
m1552Suspicion of CFMontpellier230414_varilhheterozygous alleleBias 705 0





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