CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.54-3001C>A
Protein name	NP_000483.3:p.(?)
Genomic name (hg19)	chr7:g.117141306C>A UCSC gnomAD
#Exon/intron	intron 1
Type in CFTR-NGS catalogue	-
*Class in CFTR-France*	not reported
WT sequence	TTCTACAGGTTCTTTTCTTTCCATC C ACACACAGTGCCATTACCCTCATTC
Mutant sequence	TTCTACAGGTTCTTTTCTTTCCATC A ACACACAGTGCCATTACCCTCATTC

CFTR-NGS Variant details:

Name

NM_000492.4:c.54-3001C>A

Protein name

NP_000483.3:p.(?)

Genomic name (hg19)

chr7:g.117141306C>A UCSC gnomAD

#Exon/intron

intron 1

Type in CFTR-NGS catalogue

Class in CFTR-France

not reported

WT sequence

TTCTACAGGTTCTTTTCTTTCCATC C ACACACAGTGCCATTACCCTCATTC

Mutant sequence

TTCTACAGGTTCTTTTCTTTCCATC A ACACACAGTGCCATTACCCTCATTC

Additional information:
MAF (GnomAD)	2.10e-04
Splicing prediction (SpliceAI)	AG: 0.00 (-17) AL: 0.00 (9) DG: 0.00 (47) DL: 0.00 (9)

Additional information:

MAF (GnomAD)

2.10e-04

Splicing prediction (SpliceAI)

AG: 0.00 (-17)
AL: 0.00 (9)
DG: 0.00 (47)
DL: 0.00 (9)

External sources:
Not found	Not found	dbSNP rs183665172	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
m4793	Asymptomatic	Montpellier	230414_varilh	heterozygous	PASS	4089	328
m5062	Asymptomatic	Montpellier	230414_varilh	heterozygous	PASS	3581	318
6175	CFTR-RD	Montpellier	40216_varilh	heterozygous	PASS	3393	299

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