RNASEH1 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol RNASEH1
Gene name ribonuclease H1
Chromosome 2
Chromosomal band p25
Imprinted Unknown
Genomic reference NC_000002.11
Transcript reference NM_002936.3, XM_005263850.1, XR_244873.1
Associated with diseases 616479
Citation reference(s) -
Curators (0) -
Total number of public variants reported 3
Unique public DNA variants reported 3
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 15, 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 18466
Entrez Gene 246243
PubMed articles RNASEH1
OMIM - Gene 604123
OMIM - Diseases 616479 (Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, 616479 (3))
HGMD RNASEH1
GeneCards RNASEH1
GeneTests RNASEH1


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00002748 2 transcript variant X2 XR_244873.1 - 3
00002749 2 transcript variant X1 XM_005263850.1 XP_005263907.1 3
00002750 2 ribonuclease H1 NM_002936.3 NP_002927.2 3


Copyright & disclaimer
; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

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