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rs797045355

From SNPedia

ClinVar
Risk rs797045355(AGCATC;AGCATC)
Alt rs797045355(AGCATC;AGCATC)
Reference Rs797045355(CATATAGCAAA;CATATAGCAAA)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77268598_77268608delCATATAGCAAAinsAGCATC
CLNSRC
CLNACC RCV000194331.1,