Database of Pathogenic Variants
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Gene Detail
Gene Symbol
HMGCL
Gene:3155
HGNC:5005
Gene Name
3-hydroxy-3-methylglutaryl-CoA lyase
Chromosome
1
Cytogenetic Band
p36.11
RefSeq Accession
NM_000191
Associated Diseases
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Associated Variants
NM_000191.2:c.242G>A
NM_000191.2:c.31C>T