catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117246657G/C


CFTR-NGS Variant details:
Name NM_000492.4:c.2909-71G>C
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117246657G>C    UCSC    gnomAD
#Exon/intron intron 17
Legacy Name 3041-71G/C
Type in CFTR-NGS catalogue -
Class in CFTR-France non disease-causing
WT sequence ATGCGTCTACTGTGATCCAAACTTA G TATTGAATATATTGATATATCTTTA
Mutant sequence ATGCGTCTACTGTGATCCAAACTTA C TATTGAATATATTGATATATCTTTA


Additional information:
MAF (GnomAD) 3.77e-02
Splicing prediction (SpliceAI) AG: 0.00 (11)
AL: 0.00 (35)
DG: 0.00 (-33)
DL: 0.00 (-1)




External sources:

Not found		dbSNP
rs34830471
Not found

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



21 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
CFTR-RD1
  • CFTR-RD  1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
9CFTR-RDMontpellier150517_varilhheterozygous PASS 4399 369





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