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rs797045105

From SNPedia

ClinVar
Risk rs797045105(CATG;CATG)
Alt rs797045105(CATG;CATG)
Reference rs797045105(;)
Significance Probable-Pathogenic
Disease 3-methylglutaconic aciduria with deafness
Variation info
Gene SERAC1
CLNDBN 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Reversed 1
HGVS NC_000006.11:g.158571484_158571485insCATG
CLNSRC
CLNACC RCV000190622.1,