catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117248896T/C


CFTR-NGS Variant details:
Name NM_000492.4:c.2989-1677T>C
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117248896T>C    UCSC    gnomAD
#Exon/intron intron 18
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence AAATAAAGCATACCTATAAATTTTC T TTTTTTAAAAAAAAGTCTCTGTTCA
Mutant sequence AAATAAAGCATACCTATAAATTTTC C TTTTTTAAAAAAAAGTCTCTGTTCA


Additional information:
MAF (GnomAD) 2.44e-04
Splicing prediction (SpliceAI) AG: 0.00 (-43)
AL: 0.00 (16)
DG: 0.00 (14)
DL: 0.00 (4)




External sources:

Not found

Not found
dbSNP
rs774913731

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


1 individual (out of 136) carrying this variant is reported in CFTR-NGS catalogue:

TOTAL NUMBER OF INDIVIDUALS 1
Suspicion of CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
cad190204Suspicion of CFMontpellier150419_Altieriheterozygous PASS 1643 132





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