Database of Pathogenic Variants
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Gene Detail
Gene Symbol
PIK3R2
Gene:5296
HGNC:8980
Gene Name
phosphoinositide-3-kinase regulatory subunit 2
Chromosome
19
Cytogenetic Band
p13.11
RefSeq Accession
NM_005027
Associated Diseases
Megalencephaly-capillary malformation-polymicrogyria syndrome
Associated Variants
NM_005027.3:c.1117G>A