CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.1584+6986G>A
Protein name	NP_000483.3:p.(?)
Genomic name (hg19)	chr7:g.117206695G>A UCSC gnomAD
#Exon/intron	intron 11
Type in CFTR-NGS catalogue	-
*Class in CFTR-France*	not reported
WT sequence	TATTGAACCAGAACCAAACAGGAAT G CCATAGCATTTTGTAAACTAAACTG
Mutant sequence	TATTGAACCAGAACCAAACAGGAAT A CCATAGCATTTTGTAAACTAAACTG

CFTR-NGS Variant details:

Name

NM_000492.4:c.1584+6986G>A

Protein name

NP_000483.3:p.(?)

Genomic name (hg19)

chr7:g.117206695G>A UCSC gnomAD

#Exon/intron

intron 11

Type in CFTR-NGS catalogue

Class in CFTR-France

not reported

WT sequence

TATTGAACCAGAACCAAACAGGAAT G CCATAGCATTTTGTAAACTAAACTG

Mutant sequence

TATTGAACCAGAACCAAACAGGAAT A CCATAGCATTTTGTAAACTAAACTG

Additional information:
MAF (GnomAD)	1.17e-02
Splicing prediction (SpliceAI)	AG: 0.00 (2) AL: 0.00 (-4) DG: 0.00 (-3) DL: 0.00 (12)

Additional information:

MAF (GnomAD)

1.17e-02

Splicing prediction (SpliceAI)

AG: 0.00 (2)
AL: 0.00 (-4)
DG: 0.00 (-3)
DL: 0.00 (12)

External sources:
Not found	Not found	dbSNP rs62469442	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
Suspicion of CF	3

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
P6Cr	Suspicion of CF	Montpellier	230414_varilh	heterozygous	PASS	2761	259
7015	Suspicion of CF	Montpellier	40216_varilh	heterozygous	PASS	7438	710
8988	Suspicion of CF	Montpellier	40216_varilh	heterozygous	PASS	4585	496

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