catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117253735C/T


CFTR-NGS Variant details:
Name NM_000492.4:c.3368-932C>T
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117253735C>T    UCSC    gnomAD
#Exon/intron intron 20
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence TTGCCTATATGAAAATAATTTAATA C TACATGCAGATATATGCTGTGTATA
Mutant sequence TTGCCTATATGAAAATAATTTAATA T TACATGCAGATATATGCTGTGTATA


Additional information:
MAF (GnomAD) 7.48e-03
Splicing prediction (SpliceAI) AG: 0.00 (10)
AL: 0.00 (-32)
DG: 0.00 (-39)
DL: 0.00 (20)




External sources:

Not found
Not found		dbSNP
no rs
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


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
m8107CFTR-RDMontpellier150419_Altieriheterozygous PASS 2407 186
26Pending (NBS)Montpellier150517_varilhheterozygous PASS 3337 274





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