NM_000048.4:c.556C>T

Benign, Likely Benign, Likely Pathogenic, Pathogenic

Likely Pathogenic, Pathogenic

Substitution

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
207900.1	Saudi Arabia	1	NA	Likely Pathogenic	Argininosuccinic Aciduria	Imtiaz et al. 2010	Compound heterozygous patient
207900.G.1.2	Saudi Arabia	16	NA	Likely Pathogenic	Argininosuccinic Aciduria	Imtiaz et al. 2010	Group of 8 patients
608310.G.3	Qatar	2	0.019	Pathogenic		Devadoss Gandhi et al. 2024	2 individuals from a study of 14,060 Qat...