MFN2, mitofusin 2, 9927

N. diseases: 334; N. variants: 75
Disease: Dominant hereditary optic atrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs145413511
rs145413511
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4551508
Disease:
Dominant hereditary optic atrophy 		0.010 GeneticVariation BEFREE The clinical presentation looks like the autosomal dominant optic atrophy 'plus' phenotype linked to OPA1 mutations but is associated with a novel MFN2 missense mutation (c.629A>T, p.D210V). 22189565 2012