CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.1584+10183A>T
Protein name	NP_000483.3:p.(?)
Genomic name (hg19)	chr7:g.117209892A>T UCSC gnomAD
#Exon/intron	intron 11
Type in CFTR-NGS catalogue	-
*Class in CFTR-France*	not reported
WT sequence	TTTAGTCATTCATTCAAAAATACTT A ATTGAGTTACTGCTGTGTGGCAAGC
Mutant sequence	TTTAGTCATTCATTCAAAAATACTT T ATTGAGTTACTGCTGTGTGGCAAGC

CFTR-NGS Variant details:

Name

NM_000492.4:c.1584+10183A>T

Protein name

NP_000483.3:p.(?)

Genomic name (hg19)

chr7:g.117209892A>T UCSC gnomAD

#Exon/intron

intron 11

Type in CFTR-NGS catalogue

Class in CFTR-France

not reported

WT sequence

TTTAGTCATTCATTCAAAAATACTT A ATTGAGTTACTGCTGTGTGGCAAGC

Mutant sequence

TTTAGTCATTCATTCAAAAATACTT T ATTGAGTTACTGCTGTGTGGCAAGC

Additional information:
MAF (GnomAD)	1.04e-02
Splicing prediction (SpliceAI)	AG: 0.00 (7) AL: 0.00 (25) DG: 0.00 (7) DL: 0.00 (1)

Additional information:

MAF (GnomAD)

1.04e-02

Splicing prediction (SpliceAI)

AG: 0.00 (7)
AL: 0.00 (25)
DG: 0.00 (7)
DL: 0.00 (1)

External sources:
Not found	Not found	dbSNP rs75795346	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
CFTR-RD	2 CFTR-RD 2
Suspicion of CF	1

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
P2Cr	CFTR-RD	Montpellier	230414_varilh	heterozygous	PASS	6062	495
8442	CFTR-RD	Montpellier	40216_varilh	heterozygous	PASS	4106	367
8293	Suspicion of CF	Montpellier	40216_varilh	heterozygous	PASS	4342	431

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