C12orf65 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol C12orf65
Gene name chromosome 12 open reading frame 65
Chromosome 12
Chromosomal band q24.31
Imprinted Unknown
Genomic reference NC_000012.11
Transcript reference NM_001143905.2, NM_001194995.1, NM_152269.4, XM_005253630.1, XM_005253631.1
Associated with diseases COXPD7
Citation reference(s) -
Curators (0) -
Total number of public variants reported 31
Unique public DNA variants reported 29
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 07, 2013
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
HGNC 26784
Entrez Gene 91574
PubMed articles C12orf65
OMIM - Gene 613541
OMIM - Diseases COXPD7 (COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7)
HGMD C12orf65
GeneCards C12orf65
GeneTests C12orf65


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00000062 12 transcript variant 1 NM_152269.4 NP_689482.1 31
00000063 12 transcript variant X2 XM_005253631.1 XP_005253688.1 31
00000064 12 transcript variant X1 XM_005253630.1 XP_005253687.1 31
00000065 12 transcript variant 3 NM_001194995.1 NP_001181924.1 31
00000066 12 transcript variant 2 NM_001143905.2 NP_001137377.1 31


Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

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