catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117298291C/T


CFTR-NGS Variant details:
Name NM_000492.4:c.3963+5306C>T
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117298291C>T    UCSC    gnomAD
#Exon/intron intron 24
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence GAGAATTTCAAAAGAAACTGAATCC C AAGAGAAAAAAAAAAGACTTCTGGC
Mutant sequence GAGAATTTCAAAAGAAACTGAATCC T AAGAGAAAAAAAAAAGACTTCTGGC


Additional information:
MAF (GnomAD) 2.77e-02
Splicing prediction (SpliceAI) AG: 0.00 (43)
AL: 0.00 (44)
DG: 0.00 (-2)
DL: 0.00 (44)




External sources:

Not found
Not found		dbSNP
rs428524
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
Suspicion of CF 2



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
cad200366Suspicion of CFMontpellier151220_Altieriheterozygous PASS 1564 127
cad200419Suspicion of CFMontpellier151220_Altieriheterozygous PASS 805 67





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