ROGDI

Gene name: rogdi homolog (Drosophila)
OMIM ID: 614574
Chromosome location: 16p13.3

Mutations

Disease/Phenotype	Kohlschutter-Tonz syndrome
Reference transcript	NM_024589.2
DNA Change	c.229_230delCT
A.A. Change	p.Leu77AlafsX64
Exon/Intron	exon 4
Mutation Type	deletion
Reference	Schossig A, Wolf NI, Fischer C, Fischer M, Stocker G, Pabinger S, Dander A, Steiner B, Tonz O, Kotzot D, Haberlandt E, Amberger A, Burwinkel B, Wimmer K, Fauth C, Grond-Ginsbach C, et al.Mutations in ROGDI Cause Kohlschutter-Tonz Syndrome. Am J Hum Genet. 2012 Apr 6;90(4):701-7.

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