TGFB1

Gene name: transforming growth factor, beta 1
OMIM ID: 190180
Chromosome location: 19q13.2

Mutations

Disease/Phenotype	Camurati-Engelmann disease
Reference transcript	NM_000660.4
DNA Change	c.466C>T
A.A. Change	p.Arg156Cys
Exon/Intron	exon 2
Mutation Type	substitution
Reference	Simsek S, Janssens K, Kwee ML, Van Hul W, Veenstra J, Netelenbos JC.Camurati-Engelmann disease (progressive diaphyseal dysplasia) in a Moroccan family. Osteoporos Int. 2005 Sep;16(9):1167-70.

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