The ASPM gene homepage

General information
Gene symbol ASPM
Gene name asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
Chromosome 1
Chromosomal band q31
Imprinted Not imprinted
Genomic reference NG_015867.1
Transcript reference NM_018136.4
Exon/intron information NM_018136.4 exon/intron table
Associated with diseases ID, MCPH5
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 300
Unique public DNA variants reported 227
Individuals with public variants 584
Hidden variants 41
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created May 01, 2012
Date last updated May 09, 2022
Version ASPM:220509

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_018136.4.
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/ASPM
HGNC 19048
Entrez Gene 259266
PubMed articles ASPM
OMIM - Gene 605481
OMIM - Diseases MCPH5 (microcephaly, type 5, autosomal recessive (MCPH-5))
HGMD ASPM
GeneCards ASPM
GeneTests ASPM
Orphanet ASPM


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000058 1 asp (abnormal spindle) homolog, microcephaly associated (Drosophila), transcript variant 1 NM_018136.4 NP_060606.3 300


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