CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.1393-1063A>C
Protein name	NP_000483.3:p.(=)
Genomic name (hg19)	chr7:g.117198455A>C UCSC gnomAD
#Exon/intron	intron 10
Type in CFTR-NGS catalogue	-
*Class in CFTR-France*	not reported
WT sequence	AACTCCGTCTCTACTAAAAATACAA A AAATTAGCCAGACGTGATGGCGGGT
Mutant sequence	AACTCCGTCTCTACTAAAAATACAA C AAATTAGCCAGACGTGATGGCGGGT

CFTR-NGS Variant details:

Name

NM_000492.4:c.1393-1063A>C

Protein name

NP_000483.3:p.(=)

Genomic name (hg19)

chr7:g.117198455A>C UCSC gnomAD

#Exon/intron

intron 10

Type in CFTR-NGS catalogue

Class in CFTR-France

not reported

WT sequence

AACTCCGTCTCTACTAAAAATACAA A AAATTAGCCAGACGTGATGGCGGGT

Mutant sequence

AACTCCGTCTCTACTAAAAATACAA C AAATTAGCCAGACGTGATGGCGGGT

Additional information:
MAF (GnomAD)	4.58e-03
Splicing prediction (SpliceAI)	AG: 0.00 (8) AL: 0.00 (2) DG: 0.00 (23) DL: 0.00 (2)

Additional information:

MAF (GnomAD)

4.58e-03

Splicing prediction (SpliceAI)

AG: 0.00 (8)
AL: 0.00 (2)
DG: 0.00 (23)
DL: 0.00 (2)

External sources:
Not found	Not found	dbSNP rs140612488	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	1 CFTR-RD 1
Suspicion of CF	2

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
MUC10197	CFTR-RD	Cochin	150419_Altieri	heterozygous	PASS	1599	113
cad200365	Suspicion of CF	Montpellier	151220_Altieri	heterozygous	PASS	635	53
cad200367	Suspicion of CF	Montpellier	151220_Altieri	heterozygous	PASS	923	63

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