NM_000404.4:c.914+4A>G

Likely Pathogenic, Pathogenic

Substitution

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
230500.4.1	United Arab Emirates	2	Likely Pathogenic	GM1-Gangliosidosis, Type I	Georgiou et al. 2004
230500.4.2	United Arab Emirates	2	Likely Pathogenic	GM1-Gangliosidosis, Type I	Georgiou et al. 2004	Sibling of 230500.4.1
230500.5	Palestine	2	Likely Pathogenic	GM1-Gangliosidosis, Type I	Ben-Rebeh et al. 2012
230500.G.3	Palestine	12	Pathogenic	GM1-Gangliosidosis, Type I	Al-Jasmi et al. 2013	6 Palestinian patients with infantile on...