NM_198129.2:c.4299dup

Likely Pathogenic

Duplication

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
226700.1.1	Lebanon	2	NA	Likely Pathogenic	Epidermolysis Bullosa, Junctional 1B, Severe	Ayoub et al. 2005
226700.1.2	Lebanon	1	NA			Ayoub et al. 2005	Father of 226700.1.1
226700.1.3	Lebanon	1	NA			Ayoub et al. 2005	Mother of 226700.1.1
226700.2.1	Lebanon	2	NA	Likely Pathogenic	Epidermolysis Bullosa, Junctional 1B, Severe	Ayoub et al. 2005
226700.2.2	Lebanon	1	NA			Ayoub et al. 2005	Father of 226700.2.1
226700.2.3	Lebanon	1	NA			Ayoub et al. 2005	Mother of 226700.2.1