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rs1057519080

From SNPedia
ClinVar
Risk rs1057519080(-;-)
Alt rs1057519080(-;-)
Reference Rs1057519080(GCAGT;GCAGT)
Significance Pathogenic
Disease 3-methylglutaconic aciduria
Variation info
Gene LOXL3 HTRA2
CLNDBN 3-methylglutaconic aciduria, type VIII
Reversed 0
HGVS NC_000002.11:g.74760051_74760055delTGCAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000412533.1,