Database of Pathogenic Variants
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Gene Detail
Gene Symbol
HMGCS2
Gene:3158
HGNC:5008
Gene Name
3-hydroxy-3-methylglutaryl-CoA synthase 2
Chromosome
1
Cytogenetic Band
p12
RefSeq Accession
NM_005518
Associated Diseases
3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency
Associated Variants
NM_005518.3:c.1162G>A
NM_005518.3:c.1016+1G>A