The C3 gene homepage

General information
Gene symbol C3
Gene name complement component 3
Chromosome 19
Chromosomal band p13.3-p13.2
Imprinted Unknown
Genomic reference LRG_27
Transcript reference NM_000064.2
Exon/intron information NM_000064.2 exon/intron table
Associated with diseases AHUS5, ARMD9, C3D
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 255
Unique public DNA variants reported 190
Individuals with public variants 21
Hidden variants 8
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated February 26, 2024
Version C3:240226

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_000064.2.
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 https://www.LOVD.nl/C3
HGNC 1318
Entrez Gene 718
PubMed articles C3
OMIM - Gene 120700
OMIM - Diseases AHUS5 (hemolyticuremic syndrome, atypical, susceptibility type 5 (AHUS5))
ARMD9 (macular degeneration, age-related, type 9)
C3D (complement component 3 deficiency, autosomal recessive (C3D))
HGMD C3
GeneCards C3
GeneTests C3
Orphanet C3


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00003702 19 complement component 3 NM_000064.2 NP_000055.2 255


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