NM_024649.5:c.1110+329C>T

Pathogenic

Substitution

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
209900.3.1	Saudi Arabia	2		Pathogenic	Bardet-Biedl Syndrome 1	Abu-Safieh et al. 2012; Abu Safieh et al. 2010	"BBS-F006-A" in the publication
209900.3.2	Saudi Arabia	2		Pathogenic	Bardet-Biedl Syndrome 1	Abu-Safieh et al. 2012; Abu Safieh et al. 2010	Sibling of 209900.3.1 "BBS-F006-B" in t...