rs237238

This is a synonymous variant in the HIP1 gene — it does not change the protein's amino acid sequence.

▶

ClinVar annotation

Benign

1 submitter

HIP1-related disorder

About HIP1

The product of this gene is a membrane-associated protein that functions in clathrin-mediated endocytosis and protein trafficking within the cell. The encoded protein binds to the huntingtin protein in the brain; this interaction is lost in Huntington's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

View all HIP1 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…