612304.3.1

Saudi Arabia

Tachypnea; Neonatal Onset; Hematuria; Reduced protein C activity;

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000312.3:c.796+3A>T	2		Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

Related Subjects

Subject Id	Country	Sex	Remarks
612304.3.2	Saudi Arabia	Male	Father of 612304.3.1
612304.3.3	Saudi Arabia	Female	Mother of 612304.3.1
612304.3.4	Saudi Arabia	Female	Sister of 612304.3.1