catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117195540C/G


CFTR-NGS Variant details:
Name NM_000492.4:c.1393-3978C>G
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117195540C>G    UCSC    gnomAD
#Exon/intron intron 10
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence TAATCATCTCCGTGTGAGCAGTTCT C TCTCCAGTAAATTGCATATTGCAGT
Mutant sequence TAATCATCTCCGTGTGAGCAGTTCT G TCTCCAGTAAATTGCATATTGCAGT


Additional information:
MAF (GnomAD) 8.37e-05
Splicing prediction (SpliceAI) AG: 0.00 (-48)
AL: 0.00 (-4)
DG: 0.00 (30)
DL: 0.00 (-13)




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
CFTR-RD1
  • CFTR-RD  1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
5CFTR-RDMontpellier150517_varilhheterozygous PASS 2692 290





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