RNASEH2B gene homepage

General information
Gene symbol RNASEH2B
Gene name ribonuclease H2, subunit B
Chromosome 13
Chromosomal band q14.3
Imprinted Unknown
Genomic reference NG_009055.1
Transcript reference NM_024570.3
Exon/intron information NM_024570.3 exon/intron table
Associated with diseases AGS-2, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Lisanne Vijfhuizen and Boukje de Vries
Total number of public variants reported 141
Unique public DNA variants reported 64
Individuals with public variants 88
Hidden variants 2
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 December 08, 2018
Version RNASEH2B:181208

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_024570.3.
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/RNASEH2B
External URL Orphanet
HGNC 25671
Entrez Gene 79621
PubMed articles RNASEH2B
OMIM - Gene 610326
OMIM - Diseases AGS-2 (Aicardi-Goutieres syndrome, type 2 (AGS-2))
HGMD RNASEH2B
GeneCards RNASEH2B
GeneTests RNASEH2B


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00017849 13 transcript variant 1 NM_024570.3 NP_078846.2 141


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