catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117140568T/C


CFTR-NGS Variant details:
Name NM_000492.4:c.54-3739T>C
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117140568T>C    UCSC    gnomAD
#Exon/intron intron 1
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence CATGTTGGTCAGGCTGGTCTCGAAC T CCTTACCTCAGGTGATCCACCCACC
Mutant sequence CATGTTGGTCAGGCTGGTCTCGAAC C CCTTACCTCAGGTGATCCACCCACC


Additional information:
MAF (GnomAD) -
Splicing prediction (SpliceAI) AG: 0.00 (-9)
AL: 0.00 (-42)
DG: 0.00 (-14)
DL: 0.00 (11)




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


1 individual (out of 136) carrying this variant is reported in CFTR-NGS catalogue:

TOTAL NUMBER OF INDIVIDUALS 1
Asymptomatic 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m93AsymptomaticMontpellier230414_varilhheterozygous LowQD 156 147





Go to CFTRare
VLMCHUUM