NM_001854.3:c.2702G>A

Likely Pathogenic, Uncertain Significance

Substitution

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
228520.1.1	Saudi Arabia	2	NA	Likely Pathogenic	Fibrochondrogenesis 1	Khalifa et al. 2012	Patient 1 in the publication
228520.1.2	Saudi Arabia	2	NA	Likely Pathogenic	Fibrochondrogenesis 1	Khalifa et al. 2012	Patient 2 in the publication, brother of...
228520.1.3	Saudi Arabia	1	NA	Uncertain Significance		Khalifa et al. 2012	Sibling of 228520.1.1, mild phenotype no...
228520.1.4	Saudi Arabia	1	NA	Uncertain Significance		Khalifa et al. 2012	Sibling of 228520.1.1, mild phenotype no...
228520.1.5	Saudi Arabia	1	NA	Uncertain Significance		Khalifa et al. 2012	Father of 228520.1.1, mild phenotype not...
228520.1.6	Saudi Arabia	1	NA	Uncertain Significance		Khalifa et al. 2012	Mother of 228520.1.1, mild phenotype not...
228520.4.1	Saudi Arabia	2	NA	Likely Pathogenic	Fibrochondrogenesis 1	Maddirevula et al. 2018
228520.4.2	Saudi Arabia	2	NA	Likely Pathogenic	Fibrochondrogenesis 1	Maddirevula et al. 2018	Relative of 228520.4.1