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rs878853254

From SNPedia

ClinVar
Risk rs878853254(;)
Alt rs878853254(;)
Reference rs878853254(CTCGTTGCTTCCCT;CTCGTTGCTTCCCT)
Significance Pathogenic
Disease Polymicrogyria with optic nerve hypoplasia
Variation info
Gene TUBA8
CLNDBN Polymicrogyria with optic nerve hypoplasia
Reversed 0
HGVS NC_000022.10:g.18604225_18604238delGTTGCTTCCCTCTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000005048.3,