rs72550247

This is a regulatory region variant variant in the HPN gene.

▶

ClinVar annotation

Pathogenic★★★☆

8 submitters6 publications

Atrial fibrillation, familial, 13 (ATFB13); Brugada syndrome 5 (BRGDA5); Cardiovascular phenotype; Death in early adulthood; Developmental and epileptic encephalopathy, 52 (DEE52); Generalized epilepsy with febrile seizures plus, type 1 (GEFSP1); not specified

View on ClinVar →

About HPN

This gene encodes a type II transmembrane serine protease that may be involved in diverse cellular functions, including blood coagulation and the maintenance of cell morphology. Expression of the encoded protein is associated with the growth and progression of cancers, particularly prostate cancer. The protein is cleaved into a catalytic serine protease chain and a non-catalytic scavenger receptor cysteine-rich chain, which associate via a single disulfide bond. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

View all HPN 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…