612304.2.2

Saudi Arabia

Intracranial hemorrhage; Reduced protein C activity;

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000312.3:c.811C>T	2		Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

First cousin of 612304.2.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
612304.2.1	Saudi Arabia	Intracranial hemorrhage; Abnormal thrombosis; Seizure; Abnormal thrombosis;	Female	Yes	Yes