catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117122746G/A


CFTR-NGS Variant details:
Name NM_000492.4:c.53+2545G>A
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117122746G>A    UCSC    gnomAD
#Exon/intron intron 1
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence TGATTTATAAATGGTCACCAACAGA G ATTGTGCTATTTAATTTGGGAAAAT
Mutant sequence TGATTTATAAATGGTCACCAACAGA A ATTGTGCTATTTAATTTGGGAAAAT


Additional information:
MAF (GnomAD) 1.40e-03
Splicing prediction (SpliceAI) AG: 0.00 (-1)
AL: 0.00 (1)
DG: 0.00 (-13)
DL: 0.00 (1)




External sources:

Not found

Not found
dbSNP
rs139941795

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
cad200366Suspicion of CFMontpellier151220_Altieriheterozygous PASS 689 64





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