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rs863225444

From SNPedia

ClinVar
Risk rs863225444(;)
Alt rs863225444(;)
Reference rs863225444(GGT;GGT)
Significance Pathogenic
Disease Leigh syndrome
Variation info
Gene LRPPRC
CLNDBN Leigh syndrome, French Canadian type
Reversed 1
HGVS NC_000002.11:g.44161925_44161927delACC
CLNSRC OMIM Allelic Variant
CLNACC RCV000202390.2,