612304.5.1

United Arab Emirates

Reduced protein C activity; Visual impairment; Hypertension; Renal papillary necrosis

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000312.3:c.1198G>A	2		Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

Received a liver transplant from his heterozygous maternal aunt

Related Subjects

Subject Id	Country	Sex	Remarks
612304.5.2	United Arab Emirates	Male	Father of 612304.5.1
612304.5.3	United Arab Emirates	Female	Mother of 612304.5.1
612304.5.4	United Arab Emirates	Female	Maternal aunt (and liver donor) of 612304.5.1