CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.3874-4818_3874-4817delGT
Protein name	NP_000483.3:p.(?)
Genomic name (hg19)	chr7:g.117288078_117288079del UCSC
#Exon/intron	intron 23
Type in CFTR-NGS catalogue	microsatellite
*Class in CFTR-France*	not reported
WT sequence	ACGGAGTGTGTGTGTGTGTGTGTGT GT ATATATATATACACACACACATTAT
Mutant sequence	ACGGAGTGTGTGTGTGTGTGTGTGT -- ATATATATATACACACACACATTAT

Additional information:
MAF (GnomAD)	0.00e+00
Splicing prediction (SpliceAI)	AG: 0.00 (4) AL: 0.00 (2) DG: 0.00 (8) DL: 0.00 (2)

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

30 individuals (out of 136) carrying this variant are reported in CFTR-NGS catalogue:
TOTAL NUMBER OF INDIVIDUALS	30
Asymptomatic	7
CF	5
CFTR-RD	10 CFTR-RD 10
Infertility	1
Pending (NBS)	3
Suspicion of CF	4

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
m2762	Asymptomatic	Montpellier	230414_varilh	heterozygous	PASS	8695	0
m4793	Asymptomatic	Montpellier	230414_varilh	heterozygous	alleleBias	805	0
MUCO07585	Asymptomatic	Montpellier	100714_varilh	heterozygous	alleleBias	109	0
T18	Asymptomatic	Montpellier	160218_varilh	heterozygous	PASS	111	8
vd62	Asymptomatic	Montpellier	230414_varilh	heterozygous	alleleBias	557	0
9005	Asymptomatic	Montpellier	40216_varilh	heterozygous	PASS	73	18
9004	Asymptomatic	Montpellier	40216_varilh	heterozygous	alleleBias	57	0
m2369	CF	Montpellier	230414_varilh	heterozygous	alleleBias	667	0
9886	CF	Montpellier	160218_varilh	heterozygous	PASS	68	14
17MU01239	CF	Cochin	150419_Altieri	heterozygous	LowVariantFreq	63	39
18MU01177	CF	Cochin	150419_Altieri	heterozygous	LowVariantFreq	79	45
P1B	CF	Montpellier	230414_varilh	heterozygous	PASS	527	136
3357	CFTR-RD	Montpellier	40216_varilh	heterozygous	PASS	35	15
P1Co	CFTR-RD	Montpellier	230414_varilh	heterozygous	PASS	245	95
16MU00179	CFTR-RD	Cochin	150419_Altieri	heterozygous	LowVariantFreq	102	58
8442	CFTR-RD	Montpellier	40216_varilh	heterozygous	PASS	121	21
6175	CFTR-RD	Montpellier	40216_varilh	heterozygous	alleleBias	206	0
3199	CFTR-RD	Montpellier	40216_varilh	heterozygous	alleleBias	124	0
5004	CFTR-RD	Montpellier	40216_varilh	heterozygous	alleleBias	53	0
4709	CFTR-RD	Montpellier	40216_varilh	heterozygous	alleleBias	106	0
3641	CFTR-RD	Montpellier	40216_varilh	heterozygous	alleleBias	161	0
P2Cr	CFTR-RD	Montpellier	230414_varilh	heterozygous	alleleBias	891	0
m9438	Infertility	Montpellier	150419_Altieri	heterozygous	PASS	160	65
12	Pending (NBS)	Montpellier	150517_varilh	heterozygous	LowVariantFreq	77	51
5543	Pending (NBS)	Montpellier	40216_varilh	heterozygous	alleleBias	250	0
6150	Pending (NBS)	Montpellier	40216_varilh	heterozygous	alleleBias	157	0
10	Suspicion of CF	Montpellier	150517_varilh	heterozygous	PASS	117	45
P4Cr	Suspicion of CF	Montpellier	230414_varilh	heterozygous	alleleBias	1592	0
8988	Suspicion of CF	Montpellier	40216_varilh	heterozygous	alleleBias	73	0
P6Cr	Suspicion of CF	Montpellier	230414_varilh	heterozygous	alleleBias	817	0

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