catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117149147G/A


CFTR-NGS Variant details:
Name NM_000492.4:c.224G>A
Protein name NP_000483.3:p.(Arg75Gln)
Genomic name (hg19) chr7:g.117149147G>A    UCSC    gnomAD
#Exon/intron exon 3
Legacy Name R75Q
Type in CFTR-NGS catalogue -
Class in CFTR-France non disease-causing
WT sequence CCTAAACTCATTAATGCCCTTCGGC G ATGTTTTTTCTGGAGATTTATGTTC
Mutant sequence CCTAAACTCATTAATGCCCTTCGGC A ATGTTTTTTCTGGAGATTTATGTTC


Additional information:
MAF (GnomAD) 1.89e-02
Splicing prediction (SpliceAI) AG: 0.00 (48)
AL: 0.00 (-47)
DG: 0.00 (-3)
DL: 0.06 (49)

External sources:
dbSNP
no rs

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


Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C0 0.1418 0.36 1
VUS1 VUS1 VUS1 VUS5
Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing



39 individuals carrying this variant are reported 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 2343 224
5847Pending (NBS)Montpellier40216_varilhheterozygous PASS 2595 245





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