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rs797045383

From SNPedia

ClinVar
Risk rs797045383(ATGACTGG;ATGACTGG)
Alt rs797045383(ATGACTGG;ATGACTGG)
Reference rs797045383(T;T)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77296204delTinsATGACTGG
CLNSRC
CLNACC RCV000195218.1,