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rs864622333

From SNPedia

ClinVar
Risk rs864622333(AGAAATGTCTTCA;AGAAATGTCTTCA)
Alt rs864622333(AGAAATGTCTTCA;AGAAATGTCTTCA)
Reference rs864622333(;)
Significance Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90965886_90965898dupTGAAGACATTTCT
CLNSRC
CLNACC RCV000205695.1,