Database of Pathogenic Variants
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Gene Detail
Gene Symbol
ASPM
Gene:259266
HGNC:19048
Gene Name
assembly factor for spindle microtubules
Chromosome
1
Cytogenetic Band
q31.3
RefSeq Accession
NM_018136
Associated Diseases
Microcephaly 1, primary, autosomal recessive
Associated Variants
NM_018136.4:c.10168C>T