NM_000405.5:c.164C>T

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
272750.2.1	Saudi Arabia	2	NA	Pathogenic	GM2-Gangliosidosis, AB Variant	Salih et al. 2015	'Patient 1' in the publication
272750.2.2	Saudi Arabia	2	NA	Pathogenic	GM2-Gangliosidosis, AB Variant	Salih et al. 2015	Sister of 272750.2.1
272750.2.3	Saudi Arabia	2	NA	Pathogenic	GM2-Gangliosidosis, AB Variant	Salih et al. 2015	Cousin of 272750.2.1
272750.3.1	Saudi Arabia	2		Pathogenic	GM2-Gangliosidosis, AB Variant	Maddirevula et al. 2020
272750.3.G.1	Saudi Arabia					Maddirevula et al. 2020	Father, mother, 2 sisters and a brother ...
272750.3.G.2	Saudi Arabia					Alazami et al. 2015	Extended multiplex family with several a...

Epidemiology in the Arab World