catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117279531CTG/C


CFTR-NGS Variant details:
Name NM_000492.4:c.3718-2960_3718-2959delTG
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117279532_117279533del    UCSC    
#Exon/intron intron 22
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence GGAGTCAGATTCTTCATGATAAATC TG GACTTAATCAAAATTCCTCATATGG
Mutant sequence GGAGTCAGATTCTTCATGATAAATC -- GACTTAATCAAAATTCCTCATATGG


Additional information:
MAF (GnomAD) 8.15e-03
Splicing prediction (SpliceAI) AG: 0.00 (-16)
AL: 0.00 (-22)
DG: 0.00 (26)
DL: 0.00 (23)




External sources:

Not found

Not found
dbSNP
rs138046494

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


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

TOTAL NUMBER OF INDIVIDUALS 3
Asymptomatic 2
CFTR-RD1
  • CFTR-RD  1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m4793AsymptomaticMontpellier230414_varilhheterozygous PASS 5158 335
m5062AsymptomaticMontpellier230414_varilhheterozygous PASS 3780 192
6175CFTR-RDMontpellier40216_varilhheterozygous PASS 3165 177





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