current
HMGCS2:c.500A>G (p.Tyr167Cys) AND mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
current
classified by single submitter
Pathogenic
germline
human
not provided
curation
See 600234.0005 and Wolf et al. (2003). The Y167C mutation occurs in the catalytic domain of the HMGCS2 enzyme.
12647205
HMGCS2:c.500A>G (p.Tyr167Cys)
LRG_447t1:c.500A>G
LRG_447t2:c.500A>G
NM_005518.3:c.500A>G
NM_001166107.1:c.500A>G
LRG_447:g.9702A>G
NG_013348.1:g.9702A>G
NC_000001.10:g.120306854T>C
NP_001159579.1:p.Tyr167Cys
NP_005509.1:p.Tyr167Cys
missense
missense
Y167C
TYR167CYS
1p12
3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)
HMGCS2
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
HMGCS2 DEFICIENCY
MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
Childhood
<1 / 1 000 000
current
Pathogenic
germline
human
not provided
curation
See 600234.0005 and Wolf et al. (2003). The Y167C mutation occurs in the catalytic domain of the HMGCS2 enzyme.
12647205
HMGCS2, TYR167CYS
TYR167CYS
HMGCS2
MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY