catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117202817A/G


CFTR-NGS Variant details:
Name NM_000492.4:c.1584+3108A>G
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117202817A>G    UCSC    gnomAD
#Exon/intron intron 11
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence TACCCTTAGGGCACTACAGAAGCCT A GCTGATGGCTTTTAGCCTGGCTAGA
Mutant sequence TACCCTTAGGGCACTACAGAAGCCT G GCTGATGGCTTTTAGCCTGGCTAGA


Additional information:
MAF (GnomAD) 1.38e-02
Splicing prediction (SpliceAI) AG: 0.00 (46)
AL: 0.00 (34)
DG: 0.00 (48)
DL: 0.00 (-41)




External sources:

Not found

Not found
dbSNP
rs116900477

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 1
CF 1
CFTR-RD1
  • CFTR-RD  1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m9947AsymptomaticMontpellier150419_Altieriheterozygous PASS 3635 336
9078CFMontpellier160218_varilhheterozygous PASS 2742 259
16MU00510CFTR-RDCochin150419_Altieriheterozygous PASS 2819 273





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