277900.G.19.2

Saudi Arabia

Back to search Result

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000053.3:c.4195del	32

32 parents and 15 siblings of patients with Wilson Disease

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
277900.G.19.1	Saudi Arabia	Decreased circulating ceruloplasmin concentration; Increased urinary copper concentration				16 patients with Wilson Disease

Back to search Result