Fanconi renotubular syndrome 1

OMIM:134600
Mode of inheritance:Autosomal dominant
Disease classification:Endocrine, nutritional and metabolic disease

Mutations

Gene Symbol	SLC7A7
Reference transcript	NM_001126106.2
DNA Change	c.726G>A
A.A. Change	p.Trp242X
Exon/Intron	exon 5
Mutation Type	substitution
Reference	Benninga MA, Lilien M, de Koning TJ, Duran M, Versteegh FG, Goldschmeding R, Poll-The BT.Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance. J Inherit Metab Dis. 2007 Jun;30(3):402-3.

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