OCRL1

Gene name: oculocerebrorenal syndrome of Lowe
OMIM ID: 300535
Chromosome location: Xq25-q26

Mutations

Disease/Phenotype	Oculo-cerebro-renal Lowe syndrome
Reference transcript	NM_000276.3
DNA Change	c.776T>C
A.A. Change	p.Phe259Ser
Exon/Intron	exon 10
Mutation Type	substitution
Reference	Chabaa L, Monnier N, Dahri S, Jorio M, Lunardi J, Chabraoui L.[Oculo-cerebro-renal Lowe syndrome: clinical, biochemical and molecular studies in a Moroccan patient]. Ann Biol Clin (Paris). 2006 Jan-Feb;64(1):53-9.

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