The ABCA1 gene homepage

General information
Gene symbol ABCA1
Gene name ATP-binding cassette, sub-family A (ABC1), member 1
Chromosome 9
Chromosomal band q31
Imprinted Unknown
Genomic reference NG_007981.1
Transcript reference NM_005502.3
Exon/intron information NM_005502.3 exon/intron table
Associated with diseases FH, HDLCD2, TGD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 1060
Unique public DNA variants reported 844
Individuals with public variants 213
Hidden variants 18
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created June 04, 2012
Date last updated November 27, 2023
Version ABCA1:231127

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_005502.3.
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 https://www.LOVD.nl/ABCA1
HGNC 29
Entrez Gene 19
PubMed articles ABCA1
OMIM - Gene 600046
OMIM - Diseases HDLCD2 (hypoalphalipoproteinemia (HDL deficiency, type 2 (HDLCD-2)))
TGD (Tangier disease (TGD))
HGMD ABCA1
GeneCards ABCA1
GeneTests ABCA1
Orphanet ABCA1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000207 9 ATP-binding cassette, sub-family A (ABC1), member 1 NM_005502.3 NP_005493.2 1060


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