rs754645487

This is a variant in the HTRA1 gene that changes a glutamine to an lysine.

▶

ClinVar annotation

Uncertain Significance★★★☆

1 submitter11 publications

CARASIL syndrome (CARASIL); Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 (CADASIL2); HTRA1-related disorder; Macular degeneration

View on ClinVar →

About HTRA1

This gene encodes a member of the trypsin family of serine proteases. This protein is a secreted enzyme that is proposed to regulate the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. It has also been suggested to be a regulator of cell growth. Variations in the promoter region of this gene are the cause of susceptibility to age-related macular degeneration type 7. [provided by RefSeq, Jul 2008]

View all HTRA1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…