catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117277117C/T


CFTR-NGS Variant details:
Name NM_000492.4:c.3718-5375C>T
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117277117C>T    UCSC    gnomAD
#Exon/intron intron 22
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence AACTCCTAACCTCAAGTGATCTGCC C ACCTTAGCCTCCCAAATTGCTGGGA
Mutant sequence AACTCCTAACCTCAAGTGATCTGCC T ACCTTAGCCTCCCAAATTGCTGGGA


Additional information:
MAF (GnomAD) -
Splicing prediction (SpliceAI) AG: 0.00 (-35)
AL: 0.00 (8)
DG: 0.00 (31)
DL: 0.00 (8)




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 1351 0
m5062AsymptomaticMontpellier230414_varilhheterozygous alleleBias 1685 0
m93AsymptomaticMontpellier230414_varilhheterozygous alleleBias 262 90
m2369CFMontpellier230414_varilhheterozygous alleleBias 1914 0
m6426CFMontpellier230414_varilhheterozygous alleleBias 786 0
m1552Suspicion of CFMontpellier230414_varilhheterozygous alleleBias 716 0





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