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rs797045384

From SNPedia

ClinVar
Risk rs797045384(TTAC;TTAC)
Alt rs797045384(TTAC;TTAC)
Reference rs797045384(AA;AA)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77296205_77296206delAAinsTTAC
CLNSRC
CLNACC RCV000193268.1,