rs1595815286

This variant is located in the SPG11 gene.

▶

ClinVar annotation

Likely Benign★☆☆☆
1 submitter1 publication

Hereditary spastic paraplegia 11

View on ClinVar →

About SPG11

The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

View all SPG11 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

Sign in to join the discussion.

Loading comments…