CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.3874-3323delA
Protein name	NP_000483.3:p.(?)
Genomic name (hg19)	chr7:g.117289573del UCSC
#Exon/intron	intron 23
Type in CFTR-NGS catalogue	microsatellite
*Class in CFTR-France*	not reported
WT sequence	TGTGTATATATATATATATATATAT A TTTTTTTTTTCCTGAGCCAAAACAA
Mutant sequence	TGTGTATATATATATATATATATAT - TTTTTTTTTTCCTGAGCCAAAACAA

CFTR-NGS Variant details:

Name

NM_000492.4:c.3874-3323delA

Protein name

NP_000483.3:p.(?)

Genomic name (hg19)

chr7:g.117289573del UCSC

#Exon/intron

intron 23

Type in CFTR-NGS catalogue

microsatellite

Class in CFTR-France

not reported

WT sequence

TGTGTATATATATATATATATATAT A TTTTTTTTTTCCTGAGCCAAAACAA

Mutant sequence

TGTGTATATATATATATATATATAT - TTTTTTTTTTCCTGAGCCAAAACAA

Additional information:
MAF (GnomAD)	1.18e-01
Splicing prediction (SpliceAI)	AG: 0.00 (35) AL: 0.00 (-34) DG: 0.00 (37) DL: 0.00 (35)

Additional information:

MAF (GnomAD)

1.18e-01

Splicing prediction (SpliceAI)

AG: 0.00 (35)
AL: 0.00 (-34)
DG: 0.00 (37)
DL: 0.00 (35)

External sources:
Not found	Not found	dbSNP rs201572909	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
9777	CF	Montpellier	160218_varilh	heterozygous	PASS	459	136
m1552	Suspicion of CF	Montpellier	230414_varilh	heterozygous	PASS	744	201
cad200211	Suspicion of CF	Montpellier	151220_Altieri	homozygous	PASS	705	30

Go to