LOVD HAX1 homepage

General information
Gene name HCLS1 associated protein X-1
Gene symbol HAX1
Chromosome Location 1q21.3
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the HAX1 database
Date of creation April 21, 2010
Last update May 06, 2010
Version HAX1 100506
Add sequence variant Submit a sequence variant
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NC_000001.10
Transcript refseq ID NM_006118.3
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 16
Total number of individuals with variant(s) 2
Total number of variants reported 16
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the HAX1 database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
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 HAX1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the HAX1 database
Variants with no known pathogenicity Listing of all HAX1 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

Links to other resources
HGNC 16915
Entrez Gene 10456
OMIM - Gene 605998
UniProtKB (SwissProt/TrEMBL) O00165
GeneCards HAX1
GeneTests HAX1