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rs797045392

From SNPedia

ClinVar
Risk
Alt
Reference Rs797045392(TCT;TCT)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77298823_77298825delTCT
CLNSRC
CLNACC RCV000194645.1,