Have questions? Visit https://www.reddit.com/r/SNPedia

rs730882224

From SNPedia

ClinVar
Risk rs730882224(ACGGGTCGCCATCGACA;ACGGGTCGCCATCGACA)
Alt rs730882224(ACGGGTCGCCATCGACA;ACGGGTCGCCATCGACA)
Reference rs730882224(;)
Significance Probable-Pathogenic
Disease Cerebellar atrophy Global developmental delay Primary microcephaly
Variation info
Gene PNKP
CLNDBN Cerebellar atrophy Global developmental delay Primary microcephaly
Reversed 1
HGVS NC_000019.9:g.50365076_50365077insGTCGATGGCGACCCGTT
CLNSRC
CLNACC RCV000162138.1,