catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117246808G/A


CFTR-NGS Variant details:
Name NM_000492.4:c.2988+1G>A
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117246808G>A    UCSC    gnomAD
#Exon/intron intron 18
Legacy Name 3120+1G>A
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass CF-causing
WT sequence TCTTACCATATTTGACTTCATCCAG G TATGTAAAAATAAGTACCGTTAAGT
Mutant sequence TCTTACCATATTTGACTTCATCCAG A TATGTAAAAATAAGTACCGTTAAGT


Additional information:
MAF (GnomAD) 2.94e-04
Splicing prediction (SpliceAI) AG: 0.00 (18)
AL: 0.00 (0)
DG: 0.00 (18)
DL: 0.99 (-1)




External sources:
dbSNP
no rs

Not found

Variant validation:
Sanger
(present/not present/not verified)
Minigene
(effect/no effect/not performed)
presentnot performed



41 individuals carrying this variant are reported 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 612 174





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