View HSPD1 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol HSPD1
Gene name heat shock 60kDa protein 1 (chaperonin)
Chromosome 2
Chromosomal band q33.1
Imprinted Unknown
Genomic reference NC_000002.11
Transcript reference NM_002156.4, NM_199440.1
Associated with diseases HLD4
Citation reference(s) -
Curators (0) -
Total number of public variants reported 1
Unique public DNA variants reported 1
Individuals with public variants 0
Hidden variants 0
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 5261
Entrez Gene 3329
PubMed articles HSPD1
OMIM - Gene 118190
OMIM - Diseases HLD4 (LEUKODYSTROPHY, HYPOMYELINATING, 4)
HGMD HSPD1
GeneCards HSPD1
GeneTests HSPD1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000156 2 transcript variant 2 NM_199440.1 NP_955472.1 1
00000157 2 transcript variant 1 NM_002156.4 NP_002147.2 1


Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium