CFTR gene homepage - Консенсус по клиническим эффектам генетических вариантов

Консенсус по клиническим эффектам генетических вариантов

CFTR (cystic fibrosis transmembrane conductance reg...)

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	Curators: Ника Валентиновна Петрова and Тамара Симакова

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CFTR gene homepage

SeqDB

General information
Gene symbol	CFTR
Gene name	cystic fibrosis transmembrane conductance regulator
Chromosome	7
Chromosomal band	q31.2
Imprinted	Unknown
Genomic reference	NG_016465.4
Transcript reference	NM_000492.3
Associated with diseases	CF, CFTR-related
Citation reference(s)	-
Curators (2)	Ника Валентиновна Петрова and Тамара Симакова
Total number of public variants reported	225
Unique public DNA variants reported	223
Individuals with public variants	140
Hidden variants	365
Date created	March 24, 2016
Date last updated	May 07, 2018
Version	CFTR:180507

Graphical displays and utilities
Graphs	Graphs displaying summary information of all variants in the database »
UCSC Genome Browser	Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser	Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer	Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC	1884
Entrez Gene	1080
PubMed articles	CFTR
OMIM - Gene	602421
OMIM - Diseases	CF (Муковисцидоз (Cystic fibrosis))

Active transcripts

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000001	7	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	NM_000492.3	NP_000483.3	225