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rs1057519450

From SNPedia

ClinVar
Risk rs1057519450(-;-)
Alt rs1057519450(-;-)
Reference Rs1057519450(GCGCGAGCCGGTGC;GCGCGAGCCGGTGC)
Significance Pathogenic
Disease Generalized hypotonia
Variation info
Gene HEATR4 ACOT1
CLNDBN Generalized hypotonia
Reversed 0
HGVS NC_000014.8:g.74004535_74004548delAGCCGGTGCGCGCG
CLNSRC
CLNACC RCV000416479.1,