Database of Pathogenic Variants
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Gene Detail
Gene Symbol
HIBCH
Gene:26275
HGNC:4908
Gene Name
3-hydroxyisobutyryl-CoA hydrolase
Chromosome
2
Cytogenetic Band
q32.2
RefSeq Accession
NM_014362
Associated Diseases
3-hydroxyisobutryl-CoA hydrolase deficiency
Associated Variants
NM_014362.3:c.287C>A