222700.G.1

Country

United Arab Emirates

HPO Terms

Hyperammonemia

Sex

Unknown

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_003982.4:c.499+1G>C			Lysinuric Protein Intolerance
NM_003982.4:c.999G>C			Lysinuric Protein Intolerance
NM_003982.4:c.1005C>A			Lysinuric Protein Intolerance

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Remarks

Mutations reported in unknown number of Emirati patients. Two brothers with lysinuric protein intolerance included in this study were found to have two novel mutations (R333S & F335L) in SLC7A7, both in homozygous state.

References

Al-Shamsi et al. 2014