The C12orf57 gene homepage

General information
Gene symbol C12orf57
Gene name chromosome 12 open reading frame 57
Chromosome 12
Chromosomal band p13.31
Imprinted Unknown
Genomic reference NC_000012.11
Transcript reference NM_138425.2, NR_023317.1
Associated with diseases Temtamy syndrome
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 91
Unique public DNA variants reported 10
Individuals with public variants 35
Hidden variants 6
Date created November 30, -0001
Date last updated September 28, 2016
Version C12orf57:160928

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:29521
Entrez Gene 113246
PubMed articles C12orf57
OMIM - Gene 615140
OMIM - Diseases Temtamy syndrome


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024987 12 chromosome 12 open reading frame 57 NM_138425.2 NP_612434.1 91
00031630 12 Manually created transcript (removed from reference sequence) NR_023317.1 - -