LOVD SAMHD1 homepage

General information
Gene name SAM domain and HD domain 1
Gene symbol SAMHD1
Chromosome Location 20pter-q12
Database location chromium.lovd.nl
Curator Lisanne Vijfhuizen and MSc. Boukje de Vries
PubMed references View all (unique) PubMed references in the SAMHD1 database
Date of creation February 18, 2011
Last update April 15, 2014
Version SAMHD1 140415
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Genomic refseq ID NG_017059.1
Transcript refseq ID NM_015474.3
Total number of unique DNA variants reported 30
Total number of individuals with variant(s) 42
Total number of variants reported 64
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the SAMHD1 database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the SAMHD1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the SAMHD1 database
Variants with no known pathogenicity Listing of all SAMHD1 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
HGNC 15925
Entrez Gene 25939
OMIM - Gene 606754
UniProtKB (SwissProt/TrEMBL) Q9Y3Z3
External link Orphanet