CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.3367+446_3367+453dup8
Protein name	NP_000483.3:p.(?)
Genomic name (hg19)	chr7:g.117252308_117252315dup UCSC
#Exon/intron	intron 20
Type in CFTR-NGS catalogue	microsatellite
*Class in CFTR-France*	not reported
WT sequence	ACACACACACACACACACACACACA -------- GAGTTCCTCTTGTCGGTAAGTTTTG
Mutant sequence	ACACACACACACACACACACACACA CACACACA GAGTTCCTCTTGTCGGTAAGTTTTG

Additional information:
MAF (GnomAD)	2.05e-01
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

No patient found in CFTR-France

26 individuals (out of 136) carrying this variant are reported in CFTR-NGS catalogue:
TOTAL NUMBER OF INDIVIDUALS	26
Asymptomatic	5
CF	4
CFTR-RD	4 CFTR-RD 4
Infertility	1
Pending (NBS)	7
Suspicion of CF	5

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
9005	Asymptomatic	Montpellier	40216_varilh	heterozygous	PASS	462	57
MUCO07168	Asymptomatic	Montpellier	100714_varilh	heterozygous	PASS	97	19
m9946	Asymptomatic	Montpellier	150419_Altieri	heterozygous	PASS	562	55
m8582	Asymptomatic	Montpellier	150419_Altieri	heterozygous	PASS	961	109
8989	Asymptomatic	Montpellier	40216_varilh	heterozygous	PASS	808	77
9883	CF	Montpellier	160218_varilh	heterozygous	PASS	881	93
9886	CF	Montpellier	160218_varilh	heterozygous	PASS	743	80
4	CF	Montpellier	150517_varilh	heterozygous	PASS	1276	85
9078	CF	Montpellier	160218_varilh	heterozygous	PASS	1345	91
3641	CFTR-RD	Montpellier	40216_varilh	heterozygous	PASS	893	96
3199	CFTR-RD	Montpellier	40216_varilh	heterozygous	PASS	980	115
16MU00179	CFTR-RD	Cochin	150419_Altieri	heterozygous	PASS	1623	116
16MU00510	CFTR-RD	Cochin	150419_Altieri	heterozygous	PASS	484	86
m9438	Infertility	Montpellier	150419_Altieri	heterozygous	PASS	661	112
m8584	Pending (NBS)	Montpellier	150419_Altieri	heterozygous	PASS	736	103
cad190201	Pending (NBS)	Montpellier	150419_Altieri	heterozygous	PASS	1460	101
6	Pending (NBS)	Montpellier	150517_varilh	heterozygous	PASS	1299	101
12	Pending (NBS)	Montpellier	150517_varilh	heterozygous	PASS	1442	127
3190	Pending (NBS)	Montpellier	40216_varilh	heterozygous	PASS	672	64
1	Pending (NBS)	Montpellier	150517_varilh	heterozygous	PASS	2302	186
6150	Pending (NBS)	Montpellier	40216_varilh	heterozygous	PASS	1327	117
8	Suspicion of CF	Montpellier	150517_varilh	heterozygous	PASS	1572	124
8892	Suspicion of CF	Montpellier	40216_varilh	heterozygous	PASS	814	50
m9196	Suspicion of CF	Montpellier	150419_Altieri	heterozygous	PASS	410	110
10	Suspicion of CF	Montpellier	150517_varilh	heterozygous	PASS	1183	156
P5Cr	Suspicion of CF	Montpellier	230414_varilh	heterozygous	PASS	1810	146

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