catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117267579C/T


CFTR-NGS Variant details:
Name NM_000492.4:c.3472C>T
Protein name NP_000483.3:p.(Arg1158*)
Genomic name (hg19) chr7:g.117267579C>T    UCSC    gnomAD
#Exon/intron exon 22
Legacy Name R1158X
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass CF-causing
WT sequence AATGTTGTTATTTTTATTTCAGATG C GATCTGTGAGCCGAGTCTTTAAGTT
Mutant sequence AATGTTGTTATTTTTATTTCAGATG T GATCTGTGAGCCGAGTCTTTAAGTT


Additional information:
MAF (GnomAD) 2.79e-05
Splicing prediction (SpliceAI) AG: 0.00 (11)
AL: 0.00 (-3)
DG: 0.00 (-3)
DL: 0.04 (45)




External sources:
dbSNP
rs79850223
Not found

Variant validation:
Sanger
(present/not present/not verified)
 Minigene
(effect/no effect/not performed)
presentnot performed



10 individuals carrying this variant are reported in CFTR-France


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

TOTAL NUMBER OF INDIVIDUALS 1
CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
9880CFMontpellier160218_varilhheterozygous PASS 8500 653





Go to CFTRare
VLMCHUUM