CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.1584+13401_1584+13402delCT
Protein name	NP_000483.3:p.(?)
Genomic name (hg19)	chr7:g.117213110_117213111del UCSC
#Exon/intron	intron 11
Type in CFTR-NGS catalogue	microsatellite
*Class in CFTR-France*	not reported
WT sequence	ACCCTTTCTCTCTCTCTCTCTCTCT CT TGCTCTCTCTCTCTCTTTCTGTCAA
Mutant sequence	ACCCTTTCTCTCTCTCTCTCTCTCT -- TGCTCTCTCTCTCTCTTTCTGTCAA

Additional information:
MAF (GnomAD)	1.47e-05
Splicing prediction (SpliceAI)	AG: 0.00 (15) AL: 0.00 (7) DG: 0.00 (-50) DL: 0.00 (-16)

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

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
MUCO07358	Asymptomatic	Montpellier	100714_varilh	heterozygous	PASS	251	47
T17	Asymptomatic	Montpellier	160218_varilh	heterozygous	PASS	843	219
T8	Asymptomatic	Montpellier	160218_varilh	heterozygous	LowVariantFreq	366	148
m8583	Asymptomatic	Montpellier	150419_Altieri	heterozygous	PASS	902	227
MUCO07658	Asymptomatic	Montpellier	100714_varilh	heterozygous	alleleBias	211	0
MUCO07585	Asymptomatic	Montpellier	100714_varilh	heterozygous	PASS	820	103
17MU01239	CF	Cochin	150419_Altieri	heterozygous	PASS	599	160
18MU01177	CF	Cochin	150419_Altieri	heterozygous	LowVariantFreq	532	222
9883	CF	Montpellier	160218_varilh	heterozygous	LowVariantFreq	433	217
9879	CF	Montpellier	160218_varilh	heterozygous	LowVariantFreq	615	201
22	CF	Montpellier	150517_varilh	heterozygous	LowVariantFreq	437	237
21	CF	Montpellier	150517_varilh	heterozygous	PASS	800	259
MUC10197	CFTR-RD	Cochin	150419_Altieri	heterozygous	LowVariantFreq	652	251
3357	CFTR-RD	Montpellier	40216_varilh	heterozygous	PASS	615	169
17MU00956	CFTR-RD	Cochin	150419_Altieri	heterozygous	LowVariantFreq	746	239
m9437	Infertility	Montpellier	150419_Altieri	heterozygous	PASS	596	175
3	Pending (NBS)	Montpellier	150517_varilh	heterozygous	PASS	858	280
11	Pending (NBS)	Montpellier	150517_varilh	heterozygous	PASS	406	206
13	Pending (NBS)	Montpellier	150517_varilh	heterozygous	LowVariantFreq	452	204
7015	Suspicion of CF	Montpellier	40216_varilh	heterozygous	PASS	726	243
m8852	Suspicion of CF	Montpellier	150419_Altieri	heterozygous	PASS	674	179

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