catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117213090T/TTCTCTCTC


CFTR-NGS Variant details:
Name NM_000492.4:c.1584+13395_1584+13402dup8
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117213104_117213111dup    UCSC    
#Exon/intron intron 11
Type in CFTR-NGS catalogue microsatellite
Class in CFTR-France not reported
WT sequence CCTTTCTCTCTCTCTCTCTCTCTCT -------- TGCTCTCTCTCTCTCTTTCTGTCAA
Mutant sequence CCTTTCTCTCTCTCTCTCTCTCTCT CTCTCTCT TGCTCTCTCTCTCTCTTTCTGTCAA


Additional information:
MAF (GnomAD) 4.80e-02
Splicing prediction (SpliceAI) -




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
CFTR-RD1
  • CFTR-RD  1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
9CFTR-RDMontpellier150517_varilhheterozygous PASS 3564 254





Go to CFTRare
VLMCHUUM