CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.489+1053G>A
Protein name	NP_000483.3:p.(?)
Genomic name (hg19)	chr7:g.117172221G>A UCSC gnomAD
#Exon/intron	intron 4
Type in CFTR-NGS catalogue	-
*Class in CFTR-France*	not reported
WT sequence	CAAGTACCAGCAAAACATGTGATAA G TCAACAAATGTTTTATTTCAATCTG
Mutant sequence	CAAGTACCAGCAAAACATGTGATAA A TCAACAAATGTTTTATTTCAATCTG

CFTR-NGS Variant details:

Name

NM_000492.4:c.489+1053G>A

Protein name

NP_000483.3:p.(?)

Genomic name (hg19)

chr7:g.117172221G>A UCSC gnomAD

#Exon/intron

intron 4

Type in CFTR-NGS catalogue

Class in CFTR-France

not reported

WT sequence

CAAGTACCAGCAAAACATGTGATAA G TCAACAAATGTTTTATTTCAATCTG

Mutant sequence

CAAGTACCAGCAAAACATGTGATAA A TCAACAAATGTTTTATTTCAATCTG

Additional information:
MAF (GnomAD)	4.55e-03
Splicing prediction (SpliceAI)	AG: 0.00 (46) AL: 0.00 (-8) DG: 0.00 (35) DL: 0.00 (-8)

Additional information:

MAF (GnomAD)

4.55e-03

Splicing prediction (SpliceAI)

AG: 0.00 (46)
AL: 0.00 (-8)
DG: 0.00 (35)
DL: 0.00 (-8)

External sources:
Not found	Not found	dbSNP rs148505224	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
CFTR-RD	1 CFTR-RD 1

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
m5062	Asymptomatic	Montpellier	230414_varilh	heterozygous	PASS	4493	349
MUCO07319	Asymptomatic	Montpellier	100714_varilh	heterozygous	PASS	3847	267
3641	CFTR-RD	Montpellier	40216_varilh	heterozygous	PASS	5954	536

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