CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.3469-5913G>A
Protein name	NP_000483.3:p.(?)
Genomic name (hg19)	chr7:g.117261663G>A UCSC gnomAD
#Exon/intron	intron 21
Type in CFTR-NGS catalogue	-
*Class in CFTR-France*	not reported
WT sequence	CTCTACAAGACATGTAAAGGATGAG G CTTAATGACAGAGTACTTTGGGGAA
Mutant sequence	CTCTACAAGACATGTAAAGGATGAG A CTTAATGACAGAGTACTTTGGGGAA

CFTR-NGS Variant details:

Name

NM_000492.4:c.3469-5913G>A

Protein name

NP_000483.3:p.(?)

Genomic name (hg19)

chr7:g.117261663G>A UCSC gnomAD

#Exon/intron

intron 21

Type in CFTR-NGS catalogue

Class in CFTR-France

not reported

WT sequence

CTCTACAAGACATGTAAAGGATGAG G CTTAATGACAGAGTACTTTGGGGAA

Mutant sequence

CTCTACAAGACATGTAAAGGATGAG A CTTAATGACAGAGTACTTTGGGGAA

Additional information:
MAF (GnomAD)	5.79e-03
Splicing prediction (SpliceAI)	AG: 0.00 (-16) AL: 0.00 (12) DG: 0.00 (12) DL: 0.00 (-1)

Additional information:

MAF (GnomAD)

5.79e-03

Splicing prediction (SpliceAI)

AG: 0.00 (-16)
AL: 0.00 (12)
DG: 0.00 (12)
DL: 0.00 (-1)

External sources:
Not found	Not found	dbSNP no rs	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
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	3538	283
m93	Asymptomatic	Montpellier	230414_varilh	heterozygous	PASS	3134	231
m2760	CF	Montpellier	230414_varilh	heterozygous	PASS	3703	227

Go to