The C9orf72 gene homepage

General information
Gene symbol C9orf72
Gene name chromosome 9 open reading frame 72
Chromosome 9
Chromosomal band p21.1
Imprinted Unknown
Genomic reference NG_031977.1
Transcript reference NM_001256054.1, NM_018325.3, NM_145005.5
Associated with diseases FTDALS
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 76
Unique public DNA variants reported 12
Individuals with public variants 35
Hidden variants 22
Date created November 30, -0001
Date last updated September 28, 2016
Version C9orf72:160928

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:28337
Entrez Gene 203228
PubMed articles C9orf72
OMIM - Gene 614260
OMIM - Diseases FTDALS (dementia, frontotemporal, and/or amyotrophic lateral sclerosis (FTDALS))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00010406 9 transcript variant 3 NM_001256054.1 NP_001242983.1 75
00010407 9 transcript variant 2 NM_018325.3 NP_060795.1 75
00029157 9 Manually created transcript NM_145005.5 - 64