catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117300744A/G


CFTR-NGS Variant details:
Name NM_000492.4:c.3964-3998A>G
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117300744A>G    UCSC    gnomAD
#Exon/intron intron 24
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence TATGTGTGTGTGTGTGTGTGTGTGT A TATACACACACATATATATATACAT
Mutant sequence TATGTGTGTGTGTGTGTGTGTGTGT G TATACACACACATATATATATACAT


Additional information:
MAF (GnomAD) 4.19e-04
Splicing prediction (SpliceAI) AG: 0.00 (20)
AL: 0.00 (22)
DG: 0.00 (-5)
DL: 0.00 (-7)




External sources:

Not found
Not found		dbSNP
rs13223535
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 3
CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m2761AsymptomaticMontpellier230414_varilhheterozygous PASS 2112 294
m4793AsymptomaticMontpellier230414_varilhheterozygous alleleBias 404 0
m93AsymptomaticMontpellier230414_varilhheterozygous PASS 908 102
m2760CFMontpellier230414_varilhheterozygous PASS 1390 219





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