catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117295084G/C


CFTR-NGS Variant details:
Name NM_000492.4:c.3963+2099G>C
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117295084G>C    UCSC    gnomAD
#Exon/intron intron 24
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence TGGCTGACTAATATCCCCACTGTCT G AATGCATAGCACCTAGTTTCTGTTG
Mutant sequence TGGCTGACTAATATCCCCACTGTCT C AATGCATAGCACCTAGTTTCTGTTG


Additional information:
MAF (GnomAD) 1.17e-02
Splicing prediction (SpliceAI) AG: 0.00 (10)
AL: 0.00 (-26)
DG: 0.00 (-33)
DL: 0.00 (-27)




External sources:

Not found

Not found
dbSNP
rs118156631

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


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

TOTAL NUMBER OF INDIVIDUALS 6
Asymptomatic 2
CF 1
CFTR-RD3
  • CFTR-RD  3



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m4793AsymptomaticMontpellier230414_varilhheterozygous PASS 1303 114
MUCO07318AsymptomaticMontpellier100714_varilhheterozygous PASS 483 54
9777CFMontpellier160218_varilhheterozygous PASS 3380 299
3641CFTR-RDMontpellier40216_varilhheterozygous PASS 3173 316
6959CFTR-RDMontpellier40216_varilhheterozygous PASS 2379 201
m8107CFTR-RDMontpellier150419_Altieriheterozygous PASS 3478 362





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