CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.1680-124T>C
Protein name	NP_000483.3:p.(?)
Genomic name (hg19)	chr7:g.117230283T>C UCSC gnomAD
#Exon/intron	intron 12
Type in CFTR-NGS catalogue	-
*Class in CFTR-France*	not reported
WT sequence	TGCACCACTTTTGAGAATAGTGTTA T TTCAGTGAATCGATGTGGTGACCAT
Mutant sequence	TGCACCACTTTTGAGAATAGTGTTA C TTCAGTGAATCGATGTGGTGACCAT

CFTR-NGS Variant details:

Name

NM_000492.4:c.1680-124T>C

Protein name

NP_000483.3:p.(?)

Genomic name (hg19)

chr7:g.117230283T>C UCSC gnomAD

#Exon/intron

intron 12

Type in CFTR-NGS catalogue

Class in CFTR-France

not reported

WT sequence

TGCACCACTTTTGAGAATAGTGTTA T TTCAGTGAATCGATGTGGTGACCAT

Mutant sequence

TGCACCACTTTTGAGAATAGTGTTA C TTCAGTGAATCGATGTGGTGACCAT

Additional information:
MAF (GnomAD)	9.92e-02
Splicing prediction (SpliceAI)	AG: 0.00 (-34) AL: 0.00 (6) DG: 0.00 (17) DL: 0.00 (-5)

Additional information:

MAF (GnomAD)

9.92e-02

Splicing prediction (SpliceAI)

AG: 0.00 (-34)
AL: 0.00 (6)
DG: 0.00 (17)
DL: 0.00 (-5)

External sources:
Not found	Not found	dbSNP rs17140229	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	1
Suspicion of CF	2

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
MUCO07358	Asymptomatic	Montpellier	100714_varilh	heterozygous	PASS	1030	68
cad200291	Suspicion of CF	Montpellier	151220_Altieri	heterozygous	PASS	992	120
cad200419	Suspicion of CF	Montpellier	151220_Altieri	heterozygous	PASS	605	61

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