CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.1585-2813_1585-2810delTTTT
Protein name	NP_000483.3:p.(?)
Genomic name (hg19)	chr7:g.117224980_117224983del UCSC
#Exon/intron	intron 11
Type in CFTR-NGS catalogue	repeat
*Class in CFTR-France*	not reported
WT sequence	ATTTTCATGTATTTTAGTTTTTTTT TTTT GTTTGTTTTGTTTTGTTTTGTTTTG
Mutant sequence	ATTTTCATGTATTTTAGTTTTTTTT ---- GTTTGTTTTGTTTTGTTTTGTTTTG

CFTR-NGS Variant details:

Name

NM_000492.4:c.1585-2813_1585-2810delTTTT

Protein name

NP_000483.3:p.(?)

Genomic name (hg19)

chr7:g.117224980_117224983del UCSC

#Exon/intron

intron 11

Type in CFTR-NGS catalogue

repeat

Class in CFTR-France

not reported

WT sequence

ATTTTCATGTATTTTAGTTTTTTTT TTTT GTTTGTTTTGTTTTGTTTTGTTTTG

Mutant sequence

ATTTTCATGTATTTTAGTTTTTTTT ---- GTTTGTTTTGTTTTGTTTTGTTTTG

Additional information:
MAF (GnomAD)	-
Splicing prediction (SpliceAI)	-

Additional information:

MAF (GnomAD)

Splicing prediction (SpliceAI)

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
Asymptomatic	2
CFTR-RD	1 CFTR-RD 1

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
m4793	Asymptomatic	Montpellier	230414_varilh	heterozygous	PASS	4459	187
MUCO07358	Asymptomatic	Montpellier	100714_varilh	heterozygous	PASS	1695	173
3199	CFTR-RD	Montpellier	40216_varilh	heterozygous	PASS	15887	882

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