CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.1680-883A>G
Protein name	NP_000483.3:p.(=)
Genomic name (hg19)	chr7:g.117229524A>G UCSC gnomAD
#Exon/intron	intron 12
Type in CFTR-NGS catalogue	-
*Class in CFTR-France*	disease-causing
Subclass	CF-causing
WT sequence	GAGAATCCTATGTACTTGAGATATA A GTAAGGTTACTATCAATCACACCTG
Mutant sequence	GAGAATCCTATGTACTTGAGATATA G GTAAGGTTACTATCAATCACACCTG

CFTR-NGS Variant details:

Name

NM_000492.4:c.1680-883A>G

Protein name

NP_000483.3:p.(=)

Genomic name (hg19)

chr7:g.117229524A>G UCSC gnomAD

#Exon/intron

intron 12

Type in CFTR-NGS catalogue

Class in CFTR-France

disease-causing

Subclass

CF-causing

WT sequence

GAGAATCCTATGTACTTGAGATATA A GTAAGGTTACTATCAATCACACCTG

Mutant sequence

GAGAATCCTATGTACTTGAGATATA G GTAAGGTTACTATCAATCACACCTG

Additional information:
MAF (GnomAD)	-
Splicing prediction (SpliceAI)	AG: 0.11 (-49) AL: 0.00 (37) DG: 0.72 (0) DL: 0.00 (5)

Additional information:

MAF (GnomAD)

Splicing prediction (SpliceAI)

AG: 0.11 (-49)
AL: 0.00 (37)
DG: 0.72 (0)
DL: 0.00 (5)

External sources:
Not found	Not found	dbSNP rs1554388867	Not found

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

Variant validation:

Sanger
(present/not present/not verified)

Minigene
(effect/no effect/not performed)

present

not performed

3 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
Asymptomatic	2
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	6189	668
m93	Asymptomatic	Montpellier	230414_varilh	heterozygous	PASS	3723	330
m2760	CF	Montpellier	230414_varilh	heterozygous	PASS	6509	445

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