CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.54-6168A>G
Protein name	NP_000483.3:p.(?)
Genomic name (hg19)	chr7:g.117138139A>G UCSC gnomAD
#Exon/intron	intron 1
Type in CFTR-NGS catalogue	-
*Class in CFTR-France*	not reported
WT sequence	GTACGAAGTTAGCAAATTAATTTCC A TTAGGGTGCCTGTATGGTTGTAAAT
Mutant sequence	GTACGAAGTTAGCAAATTAATTTCC G TTAGGGTGCCTGTATGGTTGTAAAT

CFTR-NGS Variant details:

Name

NM_000492.4:c.54-6168A>G

Protein name

NP_000483.3:p.(?)

Genomic name (hg19)

chr7:g.117138139A>G UCSC gnomAD

#Exon/intron

intron 1

Type in CFTR-NGS catalogue

Class in CFTR-France

not reported

WT sequence

GTACGAAGTTAGCAAATTAATTTCC A TTAGGGTGCCTGTATGGTTGTAAAT

Mutant sequence

GTACGAAGTTAGCAAATTAATTTCC G TTAGGGTGCCTGTATGGTTGTAAAT

Additional information:
MAF (GnomAD)	3.77e-04
Splicing prediction (SpliceAI)	AG: 0.00 (1) AL: 0.00 (5) DG: 0.00 (-26) DL: 0.00 (5)

Additional information:

MAF (GnomAD)

3.77e-04

Splicing prediction (SpliceAI)

AG: 0.00 (1)
AL: 0.00 (5)
DG: 0.00 (-26)
DL: 0.00 (5)

External sources:
Not found	Not found	dbSNP rs753840683	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	2
Suspicion of CF	1

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
21	CF	Montpellier	150517_varilh	heterozygous	PASS	4788	428
22	CF	Montpellier	150517_varilh	heterozygous	PASS	3739	379
csg183926	Suspicion of CF	Montpellier	151220_Altieri	heterozygous	PASS	1852	154

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