CFTR-France

Variant details:
Name	NM_000492.4:c.1802T>C
Protein name	NP_000483.3:p.(Ile601Thr)
Genomic name (hg19)	chr7:g.117232023T>C UCSC
#Exon/intron	exon 14
Legacy Name	I601T
Class	disease-causing
Subclass	CF-causing
WT sequence	AAACTGATGGCTAACAAAACTAGGA T TTTGGTCACTTCTAAAATGGAACAT
Mutant sequence	AAACTGATGGCTAACAAAACTAGGA C TTTGGTCACTTCTAAAATGGAACAT

Other databases:
Not found	Not found	dbSNP rs397508307

No patient found in CFTR-NGS catalogue

3 patients carrying this variant are reported in CFTR-France:

TOTAL NUMBER OF PATIENTS	3
CF	2
Pending (NBS)	1

Color code: non disease-causing < likely benign < VUS < likely pathogenic < disease-causing

Detailed genotypes:
Phenotype	Patient ID	Variant status	Additional variants
CF	1888	heterozygote	CF-causing- Undef CF-causing- Undef
CF	2599	heterozygote	CF-causing- Undef CF-causing- Undef
Pending (NBS)	5310	heterozygote	CF-causing- Undef CF-causing- Undef VUS3- Undef

Color code: non disease-causing < likely benign < VUS < likely pathogenic < disease-causing

CFTR variants are clustered into five groups:

CF-causing: when in trans with another CF-causing mutation, will result in CF.
CFTR-RD causing: when in trans with a CF-causing mutation, will result in CFTR-related disorders (CFTR-RD) such as chronic pancreatitis, bronchiectasis, CRS-NP (chronic rhinosinusitis with or without nasal polyposis) or CBAVD (congenital absence of vas deferens), according to Bombieri C et al., 2011.
Varying clinical consequence: when in trans with another CF-causing mutation, can either result in CF or in a CFTR-RD.
Non disease-causing: when in trans with a CF-causing mutation, will not cause CF, nor CFTR-RD.
VUS (Variant of unknown clinical significance): unclassified because of insufficient data.

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