catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117139538C/A


CFTR-NGS Variant details:
Name NM_000492.4:c.54-4769C>A
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117139538C>A    UCSC    gnomAD
#Exon/intron intron 1
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence GTGTTTAAAAAATCAAGTGATAGGG C TTTTCCTCAATAAAATCTGAAATCT
Mutant sequence GTGTTTAAAAAATCAAGTGATAGGG A TTTTCCTCAATAAAATCTGAAATCT


Additional information:
MAF (GnomAD) 6.27e-03
Splicing prediction (SpliceAI) AG: 0.00 (33)
AL: 0.00 (15)
DG: 0.00 (31)
DL: 0.00 (-10)




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


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
cad200419Suspicion of CFMontpellier151220_Altieriheterozygous PASS 368 46





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