catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117204805C/T


CFTR-NGS Variant details:
Name NM_000492.4:c.1584+5096C>T
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117204805C>T    UCSC    gnomAD
#Exon/intron intron 11
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence AACTCTAATGTCTGCAAAGCACTTG C GTATGTAATGATGCTCAGTGTCATA
Mutant sequence AACTCTAATGTCTGCAAAGCACTTG T GTATGTAATGATGCTCAGTGTCATA


Additional information:
MAF (GnomAD) 7.73e-03
Splicing prediction (SpliceAI) AG: 0.00 (-22)
AL: 0.00 (-6)
DG: 0.00 (-2)
DL: 0.02 (36)




External sources:

Not found
Not found		dbSNP
rs146793783
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
9005AsymptomaticMontpellier40216_varilhheterozygous PASS 1929 173
4709CFTR-RDMontpellier40216_varilhheterozygous PASS 2463 260





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