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Items: 2

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:193361167
GRCh38:
Chr3:193643378
OPA1Abortive cerebellar ataxia, Optic Atrophy Type 1, Dominant hereditary optic atrophy,
not specified, not provided
GO-ESP:0.00038(G)
GMAF:0.00040(G)
Conflicting interpretations of pathogenicity
(May 20, 2015)
criteria provided, conflicting interpretations
2.
GRCh37:
Chr3:193384959-193384962
GRCh38:
Chr3:193667170-193667173
OPA1Abortive cerebellar ataxia, Optic Atrophy Type 1, Dominant hereditary optic atrophy,
not provided
GO-ESP:0.00192(-)Pathogenic
(Nov 12, 2015)
criteria provided, multiple submitters, no conflicts