RAB7

Gene name: RAB7A, member RAS oncogene family
OMIM ID: 602298
Chromosome location: 3q21.3

Mutations

Disease/Phenotype	Charcot-Marie-Tooth Disease, Axonal, Type 2B
Reference transcript	NM_004637.5
DNA Change	c.471G>C
A.A. Change	p.Lys157Asn
Exon/Intron	exon 5
Mutation Type	substitution
Reference	Meggouh F, Bienfait HM, Weterman MA, de Visser M, Baas F.Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene. Neurology. 2006 Oct 24;67(8):1476-8.

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