CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.53+3158A>G
Protein name	NP_000483.3:p.(?)
Genomic name (hg19)	chr7:g.117123359A>G UCSC gnomAD
#Exon/intron	intron 1
Type in CFTR-NGS catalogue	-
*Class in CFTR-France*	non disease-causing
WT sequence	CTAAATAATACATAAATTTCTTCTC A TAAGTATATATTAGCCACATTATTT
Mutant sequence	CTAAATAATACATAAATTTCTTCTC G TAAGTATATATTAGCCACATTATTT

CFTR-NGS Variant details:

Name

NM_000492.4:c.53+3158A>G

Protein name

NP_000483.3:p.(?)

Genomic name (hg19)

chr7:g.117123359A>G UCSC gnomAD

#Exon/intron

intron 1

Type in CFTR-NGS catalogue

Class in CFTR-France

non disease-causing

WT sequence

CTAAATAATACATAAATTTCTTCTC A TAAGTATATATTAGCCACATTATTT

Mutant sequence

CTAAATAATACATAAATTTCTTCTC G TAAGTATATATTAGCCACATTATTT

Additional information:
MAF (GnomAD)	1.40e-05
Splicing prediction (SpliceAI)	AG: 0.00 (5) AL: 0.00 (29) DG: 0.00 (-1) DL: 0.00 (-11)

Additional information:

MAF (GnomAD)

1.40e-05

Splicing prediction (SpliceAI)

AG: 0.00 (5)
AL: 0.00 (29)
DG: 0.00 (-1)
DL: 0.00 (-11)

External sources:
Not found	Not found	dbSNP rs1264197967	Not found

Variant validation:
Sanger (present/not present/not verified)	Minigene (effect/no effect/not performed)
present	no effect

Variant validation:

Sanger
(present/not present/not verified)

Minigene
(effect/no effect/not performed)

present

no effect

4 individuals carrying this variant are reported in CFTR-France

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

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
m6426	CF	Montpellier	230414_varilh	heterozygous	PASS	1912	294
P1B	CF	Montpellier	230414_varilh	heterozygous	PASS	2035	305
9886	CF	Montpellier	160218_varilh	heterozygous	PASS	1096	93

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