CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.3874-3325A>T
Protein name	NP_000483.3:p.(?)
Genomic name (hg19)	chr7:g.117289571A>T UCSC gnomAD
#Exon/intron	intron 23
Type in CFTR-NGS catalogue	-
*Class in CFTR-France*	not reported
WT sequence	TGTGTGTATATATATATATATATAT A TATTTTTTTTTTCCTGAGCCAAAAC
Mutant sequence	TGTGTGTATATATATATATATATAT T TATTTTTTTTTTCCTGAGCCAAAAC

CFTR-NGS Variant details:

Name

NM_000492.4:c.3874-3325A>T

Protein name

NP_000483.3:p.(?)

Genomic name (hg19)

chr7:g.117289571A>T UCSC gnomAD

#Exon/intron

intron 23

Type in CFTR-NGS catalogue

Class in CFTR-France

not reported

WT sequence

TGTGTGTATATATATATATATATAT A TATTTTTTTTTTCCTGAGCCAAAAC

Mutant sequence

TGTGTGTATATATATATATATATAT T TATTTTTTTTTTCCTGAGCCAAAAC

Additional information:
MAF (GnomAD)	1.49e-01
Splicing prediction (SpliceAI)	AG: 0.00 (19) AL: 0.00 (-31) DG: 0.00 (-31) DL: 0.00 (36)

Additional information:

MAF (GnomAD)

1.49e-01

Splicing prediction (SpliceAI)

AG: 0.00 (19)
AL: 0.00 (-31)
DG: 0.00 (-31)
DL: 0.00 (36)

External sources:
Not found	Not found	dbSNP rs13310092	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
CF	1
Suspicion of CF	2

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
P3Cr	CF	Montpellier	230414_varilh	heterozygous	PASS	5188	263
P7Cr	Suspicion of CF	Montpellier	230414_varilh	heterozygous	LowVariantFreq	485	279
m4959	Suspicion of CF	Montpellier	151220_Altieri	heterozygous	PASS	287	63

Go to