C7orf11

Gene name: M-phase specific PLK1 interacting protein
OMIM ID: 609188
Chromosome location: 7p14.1

Mutations

Disease/Phenotype	Trichothiodystrophy, nonphotosensitive 1
Reference transcript	NM_138701.3
DNA Change	c.137_138delGG
A.A. Change	p.Gly46GlufsX13
Exon/Intron	exon 1
Mutation Type	deletion
Reference	Nakabayashi K, Amann D, Ren Y, Saarialho-Kere U, Avidan N, Gentles S, MacDonald JR, Puffenberger EG, Christiano AM, Martinez-Mir A, Salas-Alanis JC, Rizzo R, Vamos E, Raams A, Les C, Seboun E, Jaspers NG, Beckmann JS, Jackson CE, Scherer SW.Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. Am J Hum Genet. 2005 Mar;76(3):510-6.

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