CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.3367+215_3367+216delGT
Protein name	NP_000483.3:p.(?)
Genomic name (hg19)	chr7:g.117252077_117252078del UCSC
#Exon/intron	intron 20
Type in CFTR-NGS catalogue	-
*Class in CFTR-France*	not reported
WT sequence	TGAAATCGGATATATATATATATAT GT ATATATATATATATATATATATATA
Mutant sequence	TGAAATCGGATATATATATATATAT -- ATATATATATATATATATATATATA

CFTR-NGS Variant details:

Name

NM_000492.4:c.3367+215_3367+216delGT

Protein name

NP_000483.3:p.(?)

Genomic name (hg19)

chr7:g.117252077_117252078del UCSC

#Exon/intron

intron 20

Type in CFTR-NGS catalogue

Class in CFTR-France

not reported

WT sequence

TGAAATCGGATATATATATATATAT GT ATATATATATATATATATATATATA

Mutant sequence

TGAAATCGGATATATATATATATAT -- ATATATATATATATATATATATATA

Additional information:
MAF (GnomAD)	0.00e+00
Splicing prediction (SpliceAI)	AG: 0.00 (44) AL: 0.00 (48) DG: 0.00 (5) DL: 0.00 (1)

Additional information:

MAF (GnomAD)

0.00e+00

Splicing prediction (SpliceAI)

AG: 0.00 (44)
AL: 0.00 (48)
DG: 0.00 (5)
DL: 0.00 (1)

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

5 individuals (out of 136) carrying this variant are reported in CFTR-NGS catalogue:
TOTAL NUMBER OF INDIVIDUALS	5
Asymptomatic	3
CF	2

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
m2761	Asymptomatic	Montpellier	230414_varilh	heterozygous	PASS	416	82
m93	Asymptomatic	Montpellier	230414_varilh	heterozygous	PASS	769	42
MUCO07658	Asymptomatic	Montpellier	100714_varilh	heterozygous	PASS	109	20
m2760	CF	Montpellier	230414_varilh	heterozygous	PASS	268	75
P2B	CF	Montpellier	230414_varilh	heterozygous	PASS	113	35

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