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rs797045366

From SNPedia

ClinVar
Risk
Alt
Reference Rs797045366(GGCATACTAATAAAA;GGCATACTAATAAAA)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77284898_77284912delGCATACTAATAAAAG
CLNSRC
CLNACC RCV000193101.1,