View gene CFTR

General information
Gene symbol CFTR
Gene name cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
Chromosome 7
Chromosomal band q31-q32
Imprinted Not imprinted
Genomic reference NG_016465.3
Transcript reference NM_000492.3
Exon/intron information NM_000492.3
Associated with diseases BESC-1, CBAVD, CF, PCTT
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 321
Unique public DNA variants reported 185
Individuals with public variants 49
Hidden variants 0
Date created April 05, 2011
Date last updated October 31, 2015
Version CFTR:151031

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.LOVD.nl/CFTR
External URL Cystic Fibrosis Mutation Database (CFTR1)
CFTR2 - Clinical and Functional Translation of CFTR website
Orphanet
HGNC 1884
Entrez Gene 1080
PubMed articles CFTR
OMIM - Gene 602421
OMIM - Diseases BESC-1 (bronchiectasis, with/without elevated sweat chloride, type 1, modifier of (BESC-1))
CBAVD (vas deferens, congenital bilateral absence (CBAVD))
CF (cystic fibrosis (CF))
PCTT (pancreatitis (PCTT))
HGMD CFTR
GeneCards CFTR
GeneTests CFTR


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000116 7 cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) NM_000492.3 NP_000483.3 321


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