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
Exon/intron information NM_001256054.1 exon/intron table, NM_018325.3 exon/intron table
Associated with diseases FTDALS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Jordi Clarimon
Total number of public variants reported 96
Unique public DNA variants reported 52
Individuals with public variants 1029
Hidden variants 1
Date created July 30, 2012
Date last updated November 27, 2023
Version C9orf72:231127

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001256054.1, NM_018325.3.
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 28337
Entrez Gene 203228
PubMed articles C9orf72
OMIM - Gene 614260
OMIM - Diseases FTDALS (dementia, frontotemporal, and/or amyotrophic lateral sclerosis (FTDALS))
HGMD C9orf72
GeneCards C9orf72
GeneTests C9orf72
Orphanet C9orf72

Active transcripts




NCBI ID     

NCBI Protein ID     

00000263 9 transcript variant 3 NM_001256054.1 NP_001242983.1 96
00025849 9 transcript variant 2 NM_018325.3 NP_060795.1 27

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