NM_000383.2:c.1236_1239dup

Chr21:44293133:44293136

Pathogenic

Duplication

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
240300.1.1	Saudi Arabia	2		Pathogenic	Autoimmune Polyendocrine Syndrome, Type I, with or without Reversible Metaphyseal Dysplasia	Faiyaz-Ul-Haque et al, 2009
240300.1.2	Saudi Arabia	2		Pathogenic	Autoimmune Polyendocrine Syndrome, Type I, with or without Reversible Metaphyseal Dysplasia	Faiyaz-Ul-Haque et al, 2009	Sister of 240300.1.2