CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.1393-890_1393-875dup16
Protein name	NP_000483.3:p.(?)
Genomic name (hg19)	chr7:g.117198628_117198643dup UCSC
#Exon/intron	intron 10
Type in CFTR-NGS catalogue	microsatellite
*Class in CFTR-France*	not reported
WT sequence	ATAAATAAATAAATAAATAAATAAA ---------------- ATCAGTGCTTTTTCTTCCTCTGCTA
Mutant sequence	ATAAATAAATAAATAAATAAATAAA TAAATAAATAAATAAA ATCAGTGCTTTTTCTTCCTCTGCTA

CFTR-NGS Variant details:

Name

NM_000492.4:c.1393-890_1393-875dup16

Protein name

NP_000483.3:p.(?)

Genomic name (hg19)

chr7:g.117198628_117198643dup UCSC

#Exon/intron

intron 10

Type in CFTR-NGS catalogue

microsatellite

Class in CFTR-France

not reported

WT sequence

ATAAATAAATAAATAAATAAATAAA ---------------- ATCAGTGCTTTTTCTTCCTCTGCTA

Mutant sequence

ATAAATAAATAAATAAATAAATAAA TAAATAAATAAATAAA ATCAGTGCTTTTTCTTCCTCTGCTA

Additional information:
MAF (GnomAD)	2.11e-02
Splicing prediction (SpliceAI)	-

Additional information:

MAF (GnomAD)

2.11e-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 verified	not performed

Variant validation:

Sanger
(present/not present/not verified)

Minigene
(effect/no effect/not performed)

not verified

not 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	1
CFTR-RD	2 CFTR-RD 2

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
MUCO07318	Asymptomatic	Montpellier	100714_varilh	heterozygous	PASS	312	19
9	CFTR-RD	Montpellier	150517_varilh	heterozygous	PASS	1012	65
m8107	CFTR-RD	Montpellier	150419_Altieri	heterozygous	PASS	666	50

Go to