catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117171784T/A


CFTR-NGS Variant details:
Name NM_000492.4:c.489+616T>A
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117171784T>A    UCSC    gnomAD
#Exon/intron intron 4
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence GAGGCATCATTTAGGTGAATTCTAA T TAACATTTAGCTACCTTACAACCAC
Mutant sequence GAGGCATCATTTAGGTGAATTCTAA A TAACATTTAGCTACCTTACAACCAC


Additional information:
MAF (GnomAD) 4.52e-03
Splicing prediction (SpliceAI) AG: 0.00 (45)
AL: 0.00 (11)
DG: 0.00 (33)
DL: 0.00 (-12)




External sources:

Not found

Not found
dbSNP
no rs

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
cad190405Suspicion of CFMontpellier151220_Altieriheterozygous PASS 1993 170
cad190461Suspicion of CFMontpellier151220_Altieriheterozygous PASS 3535 268
cad200365Suspicion of CFMontpellier151220_Altieriheterozygous PASS 2664 279





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