catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117301574G/T


CFTR-NGS Variant details:
Name NM_000492.4:c.3964-3168G>T
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117301574G>T    UCSC    gnomAD
#Exon/intron intron 24
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence TATGACTGGTGTGAATCTAGAGGGA G CATACTGCATTCTGACCAAAATCTC
Mutant sequence TATGACTGGTGTGAATCTAGAGGGA T CATACTGCATTCTGACCAAAATCTC


Additional information:
MAF (GnomAD) 1.42e-03
Splicing prediction (SpliceAI) AG: 0.00 (37)
AL: 0.00 (-5)
DG: 0.00 (-18)
DL: 0.00 (-5)




External sources:

Not found

Not found
dbSNP
rs142105307

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


3 individuals (out of 136) carrying this variant are reported in CFTR-NGS catalogue:

TOTAL NUMBER OF INDIVIDUALS 3
Suspicion of CF 3



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m9196Suspicion of CFMontpellier150419_Altieriheterozygous PASS 5026 419
csg182477Suspicion of CFMontpellier151220_Altieriheterozygous PASS 5975 568
csg182478Suspicion of CFMontpellier151220_Altieriheterozygous PASS 6705 589





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