NM_001163673.1:c.388C>T

Pathogenic

Likely Pathogenic

Substitution

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
610185.1.1	United Arab Emirates; Yem...	2		Likely Pathogenic	Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2	Komara et al. 2016	Emirati family of Yemeni origin
610185.1.2	United Arab Emirates; Yem...	2		Likely Pathogenic	Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2	Komara et al. 2016	Sibling of 610185.1.1