CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.1585-12202G>C
Protein name	NP_000483.3:p.(?)
Genomic name (hg19)	chr7:g.117215591G>C UCSC gnomAD
#Exon/intron	intron 11
Type in CFTR-NGS catalogue	-
*Class in CFTR-France*	not reported
WT sequence	AAATCCTGCACTGAGTTTGTCTCAA G ATTTCTTGCACGTGAATGAATGAGT
Mutant sequence	AAATCCTGCACTGAGTTTGTCTCAA C ATTTCTTGCACGTGAATGAATGAGT

CFTR-NGS Variant details:

Name

NM_000492.4:c.1585-12202G>C

Protein name

NP_000483.3:p.(?)

Genomic name (hg19)

chr7:g.117215591G>C UCSC gnomAD

#Exon/intron

intron 11

Type in CFTR-NGS catalogue

Class in CFTR-France

not reported

WT sequence

AAATCCTGCACTGAGTTTGTCTCAA G ATTTCTTGCACGTGAATGAATGAGT

Mutant sequence

AAATCCTGCACTGAGTTTGTCTCAA C ATTTCTTGCACGTGAATGAATGAGT

Additional information:
MAF (GnomAD)	6.55e-03
Splicing prediction (SpliceAI)	AG: 0.00 (12) AL: 0.00 (1) DG: 0.00 (11) DL: 0.00 (48)

Additional information:

MAF (GnomAD)

6.55e-03

Splicing prediction (SpliceAI)

AG: 0.00 (12)
AL: 0.00 (1)
DG: 0.00 (11)
DL: 0.00 (48)

External sources:
Not found	Not found	dbSNP rs143532442	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
Suspicion of CF	1

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
m2761	Asymptomatic	Montpellier	230414_varilh	heterozygous	PASS	4926	558
9878	Asymptomatic	Montpellier	160218_varilh	heterozygous	PASS	4482	426
P6Cr	Suspicion of CF	Montpellier	230414_varilh	heterozygous	PASS	4693	419

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