catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117124484G/A


CFTR-NGS Variant details:
Name NM_000492.4:c.53+4283G>A
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117124484G>A    UCSC    gnomAD
#Exon/intron intron 1
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence TCTCTCTTGGCTTTACATCCTATAG G AATTGGAGGGGCCCACCTCTGGGAT
Mutant sequence TCTCTCTTGGCTTTACATCCTATAG A AATTGGAGGGGCCCACCTCTGGGAT


Additional information:
MAF (GnomAD) 1.19e-04
Splicing prediction (SpliceAI) AG: 0.00 (23)
AL: 0.00 (0)
DG: 0.00 (-47)
DL: 0.00 (49)




External sources:

Not found
Not found		dbSNP
rs1008939594
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
CF 2



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
21CFMontpellier150517_varilhheterozygous PASS 3329 336
22CFMontpellier150517_varilhheterozygous PASS 4178 400





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