NM_020530.6:c.289C>T

Likely Pathogenic

Substitution

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Reference	Remarks
165095.1	Saudi Arabia	2	Likely Pathogenic	Alfalah et al. 2025	Patient from "family 1" in the publicati...
165095.2.1	Saudi Arabia	2	Likely Pathogenic	Alfalah et al. 2025	Patient from "family 2" in the publicati...
165095.2.2	Saudi Arabia	2	Likely Pathogenic	Alfalah et al. 2025	Sister of 165095.2.1. This patient has v...