catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117256293T/TC


CFTR-NGS Variant details:
Name NM_000492.4:c.3468+1526_3468+1527insC
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117256293_117256294insC    UCSC    
#Exon/intron intron 21
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence GTTGGTTTCTTTACCTTTAACTTTT - TTTTTTAGTTTGATCAGCTCTCTTT
Mutant sequence GTTGGTTTCTTTACCTTTAACTTTT C TTTTTTAGTTTGATCAGCTCTCTTT


Additional information:
MAF (GnomAD) 4.76e-03
Splicing prediction (SpliceAI) AG: 0.00 (9)
AL: 0.00 (-23)
DG: 0.00 (-25)
DL: 0.00 (-35)




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
Pending (NBS) 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
6150Pending (NBS)Montpellier40216_varilhheterozygous PASS 4151 385





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