CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.3874-3542_3874-3539delGTGT
Protein name	NP_000483.3:p.(?)
Genomic name (hg19)	chr7:g.117289354_117289357del UCSC
#Exon/intron	intron 23
Type in CFTR-NGS catalogue	microsatellite
*Class in CFTR-France*	not reported
WT sequence	GGGATGTGTGTGTGTGTGTGTGTGT GTGT ATATGTGTGTGTGTATATATATATG
Mutant sequence	GGGATGTGTGTGTGTGTGTGTGTGT ---- ATATGTGTGTGTGTATATATATATG

CFTR-NGS Variant details:

Name

NM_000492.4:c.3874-3542_3874-3539delGTGT

Protein name

NP_000483.3:p.(?)

Genomic name (hg19)

chr7:g.117289354_117289357del UCSC

#Exon/intron

intron 23

Type in CFTR-NGS catalogue

microsatellite

Class in CFTR-France

not reported

WT sequence

GGGATGTGTGTGTGTGTGTGTGTGT GTGT ATATGTGTGTGTGTATATATATATG

Mutant sequence

GGGATGTGTGTGTGTGTGTGTGTGT ---- ATATGTGTGTGTGTATATATATATG

Additional information:
MAF (GnomAD)	3.10e-05
Splicing prediction (SpliceAI)	AG: 0.00 (6) AL: 0.00 (28) DG: 0.00 (15) DL: 0.00 (-13)

Additional information:

MAF (GnomAD)

3.10e-05

Splicing prediction (SpliceAI)

AG: 0.00 (6)
AL: 0.00 (28)
DG: 0.00 (15)
DL: 0.00 (-13)

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
CFTR-RD	1 CFTR-RD 1
Pending (NBS)	2

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
5004	CFTR-RD	Montpellier	40216_varilh	heterozygous	PASS	1446	48
6150	Pending (NBS)	Montpellier	40216_varilh	heterozygous	PASS	1469	157
3	Pending (NBS)	Montpellier	150517_varilh	heterozygous	PASS	1065	111

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