Database of Pathogenic Variants
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Gene Detail
Gene Symbol
AKT3
Gene:10000
HGNC:393
Gene Name
AKT serine/threonine kinase 3
Chromosome
1
Cytogenetic Band
q43-q44
RefSeq Accession
NM_181690
Associated Diseases
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
Associated Variants
NM_181690.2:c.487A>T