catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117260530C/T


CFTR-NGS Variant details:
Name NM_000492.4:c.3468+5763C>T
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117260530C>T    UCSC    gnomAD
#Exon/intron intron 21
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence ATAGGAATCACATTTCTGCTACTGT C CCTGAATGCTAGAGTCCATTGATTA
Mutant sequence ATAGGAATCACATTTCTGCTACTGT T CCTGAATGCTAGAGTCCATTGATTA


Additional information:
MAF (GnomAD) 3.46e-02
Splicing prediction (SpliceAI) AG: 0.00 (-21)
AL: 0.00 (36)
DG: 0.00 (8)
DL: 0.00 (0)




External sources:

Not found

Not found
dbSNP
rs113990647

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


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

TOTAL NUMBER OF INDIVIDUALS 4
Asymptomatic 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
m2762AsymptomaticMontpellier230414_varilhheterozygous PASS 8816 330
9004AsymptomaticMontpellier40216_varilhheterozygous PASS 3854 429
5914CFTR-RDMontpellier40216_varilhheterozygous PASS 3427 324
5847Pending (NBS)Montpellier40216_varilhheterozygous PASS 3289 330





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