RNASEH2A gene homepage

General information
Gene symbol RNASEH2A
Gene name ribonuclease H2, subunit A
Chromosome 19
Chromosomal band p13.13
Imprinted Unknown
Genomic reference NG_012662.1
Transcript reference NM_006397.2
Exon/intron information NM_006397.2 exon/intron table
Associated with diseases AGS-4, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Lisanne Vijfhuizen and Boukje de Vries
Total number of public variants reported 50
Unique public DNA variants reported 42
Individuals with public variants 22
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created February 18, 2011
Date last updated February 04, 2016
Version RNASEH2A:160204

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_006397.2.
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
Homepage URL http://www.LOVD.nl/RNASEH2A
HGNC 18518
Entrez Gene 10535
PubMed articles RNASEH2A
OMIM - Gene 606034
OMIM - Diseases AGS-4 (Aicardi-Goutieres syndrome, type 4 (AGS-4))
GeneCards RNASEH2A
GeneTests RNASEH2A

Active transcripts




NCBI ID     

NCBI Protein ID     

00017848 19 ribonuclease H2, subunit A NM_006397.2 NP_006388.2 50

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