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rs794727289

From SNPedia

ClinVar
Risk rs794727289(;)
Alt rs794727289(;)
Reference rs794727289(TCTTAAAACT;TCTTAAAACT)
Significance Pathogenic
Disease Dominant hereditary optic atrophy
Variation info
Gene OPA1
CLNDBN Dominant hereditary optic atrophy
Reversed 0
HGVS NC_000003.11:g.193332771_193332780delTTAAAACTTC
CLNSRC
CLNACC RCV000175871.1,