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rs864622326

From SNPedia

ClinVar
Risk rs864622326(;)
Alt rs864622326(;)
Reference rs864622326(TTTTAGTT;TTTTAGTT)
Significance Pathogenic
Disease Ataxia-telangiectasia syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene C11orf65 ATM
CLNDBN Ataxia-telangiectasia syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000011.9:g.108196114_108196121delTTAGTTTT
CLNSRC
CLNACC RCV000206192.1, RCV000218379.1,