catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117258309G/A


CFTR-NGS Variant details:
Name NM_000492.4:c.3468+3542G>A
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117258309G>A    UCSC    gnomAD
#Exon/intron intron 21
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence ATATCTTGATGAATCTTGGAAGGCC G AGGCAGGCGAATTACTTGAGGTCGG
Mutant sequence ATATCTTGATGAATCTTGGAAGGCC A AGGCAGGCGAATTACTTGAGGTCGG


Additional information:
MAF (GnomAD) 1.14e-02
Splicing prediction (SpliceAI) AG: 0.00 (3)
AL: 0.01 (-30)
DG: 0.00 (2)
DL: 0.00 (20)




External sources:

Not found

Not found
dbSNP
rs77941195

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
P7CrSuspicion of CFMontpellier230414_varilhheterozygous PASS 6940 472





Go to CFTRare
VLMCHUUM