catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117130755C/G


CFTR-NGS Variant details:
Name NM_000492.4:c.53+10554C>G
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117130755C>G    UCSC    gnomAD
#Exon/intron intron 1
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence ATGCATTAAGTGATAGCAAATAATG C CAGACATAGGGCGTCTTTAATAAAT
Mutant sequence ATGCATTAAGTGATAGCAAATAATG G CAGACATAGGGCGTCTTTAATAAAT


Additional information:
MAF (GnomAD) 1.98e-02
Splicing prediction (SpliceAI) AG: 0.00 (-33)
AL: 0.00 (-39)
DG: 0.00 (26)
DL: 0.00 (32)




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


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

TOTAL NUMBER OF INDIVIDUALS 2
CFTR-RD1
  • CFTR-RD  1
Pending (NBS) 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
5914CFTR-RDMontpellier40216_varilhheterozygous PASS 2350 250
5847Pending (NBS)Montpellier40216_varilhheterozygous PASS 2455 229





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