HTRA1, HtrA serine peptidase 1, 5654

N. diseases: 164; N. variants: 45
Disease: Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113993971
rs113993971
Entrez Id: 5654
Gene Symbol: HTRA1
HTRA1
CUI: C1838577
Disease:
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 		T 0.700 CausalMutation CLINVAR C to T transition at position 1108 (c.1108 C > T) in exon 6, causing stop codon formation (R370X) was seen in the HTRA1 gene in a homozygous state in the CARASIL patient whereas it was heterozygous in other healthy family members. 24535794 2014
dbSNP: rs113993971
rs113993971
Entrez Id: 5654
Gene Symbol: HTRA1
HTRA1
CUI: C1838577
Disease:
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 		T 0.700 CausalMutation CLINVAR Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease. 19387015 2009