MFN2, mitofusin 2, 9927

N. diseases: 334; N. variants: 75
Disease: Charcot-Marie-Tooth Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2236057
rs2236057
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0007959
Disease:
Charcot-Marie-Tooth Disease 		0.010 GeneticVariation BEFREE We describe a patient with early onset severe axonal Charcot-Marie-Tooth disease (CMT2) with dominant inheritance, in whom Sanger sequencing failed to detect a mutation in the mitofusin 2 (MFN2) gene because of a single nucleotide polymorphism (rs2236057) under the PCR primer sequence. 26916081 2016