SLC3A1

Gene name: solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1
OMIM ID: 104614
Chromosome location: 2p21

Mutations

Disease/Phenotype	Hypotonia-cystinuria syndrome
DNA Change	77.4kb deletion
A.A. Change
Exon/Intron
Mutation Type	deletion
Reference	Chabrol B, Martens K, Meulemans S, Cano A, Jaeken J, Matthijs G, Creemers JW.Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome. J Med Genet. 2008 May;45(5):314-8.

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  Variant not named according to HGVS recommendations