catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117277114G/A


CFTR-NGS Variant details:
Name NM_000492.4:c.3718-5378G>A
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117277114G>A    UCSC    gnomAD
#Exon/intron intron 22
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence TTGAACTCCTAACCTCAAGTGATCT G CCCACCTTAGCCTCCCAAATTGCTG
Mutant sequence TTGAACTCCTAACCTCAAGTGATCT A CCCACCTTAGCCTCCCAAATTGCTG


Additional information:
MAF (GnomAD) -
Splicing prediction (SpliceAI) AG: 0.00 (11)
AL: 0.00 (-48)
DG: 0.00 (34)
DL: 0.00 (-42)




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


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

TOTAL NUMBER OF INDIVIDUALS 3
Asymptomatic 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 1288 0
m5062AsymptomaticMontpellier230414_varilhheterozygous alleleBias 1533 0
m1552Suspicion of CFMontpellier230414_varilhheterozygous alleleBias 706 0





Go to CFTRare
VLMCHUUM