SLC19A3

Gene name: solute carrier family 19, member 3
OMIM ID: 606152
Chromosome location: 2q36.3

Mutations

Disease/Phenotype	Leigh syndrome
Reference transcript	NM_025243.3
DNA Change	c.20C>A
A.A. Change	p.Ser7X
Exon/Intron	exon 2
Mutation Type	substitution
Reference	Gerards M, Kamps R, van Oevelen J, Boesten I, Jongen E, de Koning B, Scholte HR, de Angst I, Schoonderwoerd K, Sefiani A, Ratbi I, Coppieters W, Karim L, de Coo R, van den Bosch B, Smeets H.Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome. Brain. 2013 Feb 18. [Epub ahead of print]

---