CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.3367+213_3367+214dupAT
Protein name	NP_000483.3:p.(?)
Genomic name (hg19)	chr7:g.117252075_117252076dup UCSC
#Exon/intron	intron 20
Type in CFTR-NGS catalogue	microsatellite
*Class in CFTR-France*	not reported
WT sequence	TGAAATCGGATATATATATATATAT -- GTATATATATATATATATATATATA
Mutant sequence	TGAAATCGGATATATATATATATAT AT GTATATATATATATATATATATATA

CFTR-NGS Variant details:

Name

NM_000492.4:c.3367+213_3367+214dupAT

Protein name

NP_000483.3:p.(?)

Genomic name (hg19)

chr7:g.117252075_117252076dup UCSC

#Exon/intron

intron 20

Type in CFTR-NGS catalogue

microsatellite

Class in CFTR-France

not reported

WT sequence

TGAAATCGGATATATATATATATAT -- GTATATATATATATATATATATATA

Mutant sequence

TGAAATCGGATATATATATATATAT AT GTATATATATATATATATATATATA

Additional information:
MAF (GnomAD)	8.87e-02
Splicing prediction (SpliceAI)	-

Additional information:

MAF (GnomAD)

8.87e-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	2
CF	1

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
m93	Asymptomatic	Montpellier	230414_varilh	heterozygous	PASS	437	78
MUCO07358	Asymptomatic	Montpellier	100714_varilh	heterozygous	PASS	84	15
P2B	CF	Montpellier	230414_varilh	heterozygous	alleleBias	549	0

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