View CFTR gene homepage - Labor Staber Humangenetik

Labor Staber Humangenetik

cystic fibrosis transmembrane conductance regulator (CFTR)

LOVD v.3.0 Build 16 [ Current LOVD status ]
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Curator: Sabine Heber

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General information
Gene symbol	CFTR
Gene name	cystic fibrosis transmembrane conductance regulator
Chromosome	7
Chromosomal band	q31.2
Imprinted	Unknown
Genomic reference	LRG_663
Transcript reference	NM_000492.3
Associated with diseases	CF, PCTT
Citation reference(s)	-
Curators (1)	Sabine Heber
Total number of public variants reported	3
Unique public DNA variants reported	3
Individuals with public variants	0
Hidden variants	0
Date created	June 28, 2016
Date last updated	October 08, 2020
Version	CFTR:201008

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
Homepage URL	http://www.genet.sickkids.on.ca/app
HGNC	1884
Entrez Gene	1080
PubMed articles	CFTR
OMIM - Gene	602421
OMIM - Diseases	CF (CYSTIC FIBROSIS) PCTT (PANCREATITIS, HEREDITARY)
HGMD	CFTR
GeneCards	CFTR
GeneTests	CFTR

Active transcripts

Legend

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000005	7	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	NM_000492.3	NP_000483.3	3

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