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
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))
GeneCards RNASEH1
GeneTests RNASEH1

Active transcripts




NCBI ID     

NCBI Protein ID     

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