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rs797045327

From SNPedia

ClinVar
Risk rs797045327(CGGGG;CGGGG)
Alt rs797045327(CGGGG;CGGGG)
Reference rs797045327(;)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77245138_77245142dupGGGGC
CLNSRC
CLNACC RCV000193458.1,