ABHD5

Gene name: abhydrolase domain containing 5
OMIM ID: 604780
Chromosome location: 3p21

Mutations

Disease/Phenotype	Chanarin-Dorfman Syndrome
Reference transcript	NM_016006.4
DNA Change	c.19G>A
A.A. Change	p.Glu7Lys
Exon/Intron	exon 1
Mutation Type	substitution
Reference	Lefevre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL, Weissenbach J, Ozg?c M, Lathrop M, Prud'homme JF, Fischer J.Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet. 2001 Nov;69(5):1002-12.

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