catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117188935T/C


CFTR-NGS Variant details:
Name NM_000492.4:c.1392+58T>C
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117188935T>C    UCSC    gnomAD
#Exon/intron intron 10
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence AATTTGGTGTCCATGTCTCTTTTTT T TTCTAGTTTGTAGTGCTGGAAGGTA
Mutant sequence AATTTGGTGTCCATGTCTCTTTTTT C TTCTAGTTTGTAGTGCTGGAAGGTA


Additional information:
MAF (GnomAD) 1.36e-04
Splicing prediction (SpliceAI) AG: 0.00 (7)
AL: 0.00 (-50)
DG: 0.00 (22)
DL: 0.00 (-47)




External sources:

Not found
Not found		dbSNP
rs3958007
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


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

TOTAL NUMBER OF INDIVIDUALS 2
Asymptomatic 1
CFTR-RD1
  • CFTR-RD  1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
MUCO07358AsymptomaticMontpellier100714_varilhheterozygous PASS 223 0
5004CFTR-RDMontpellier40216_varilhheterozygous alleleBias 930 0





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