catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117180991TCA/T


CFTR-NGS Variant details:
Name NM_000492.4:c.1116+606_1116+607delCA
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117181006_117181007del    UCSC    
#Exon/intron intron 8
Type in CFTR-NGS catalogue microsatellite
Class in CFTR-France not reported
WT sequence GGGAGATGTCTCACACACACACACA CA TAAACACACACACTCATGTGTGCAG
Mutant sequence GGGAGATGTCTCACACACACACACA -- TAAACACACACACTCATGTGTGCAG


Additional information:
MAF (GnomAD) 1.40e-05
Splicing prediction (SpliceAI) AG: 0.00 (42)
AL: 0.00 (34)
DG: 0.00 (-41)
DL: 0.00 (-39)




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


3 individuals (out of 136) carrying this variant are reported in CFTR-NGS catalogue:

TOTAL NUMBER OF INDIVIDUALS 3
Asymptomatic 2
CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
MUCO07168AsymptomaticMontpellier100714_varilhheterozygous alleleBias 45 0
MUCO07300AsymptomaticMontpellier100714_varilhheterozygous alleleBias 42 0
m6426CFMontpellier230414_varilhheterozygous alleleBias 229 0





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