rs121434363

This is a variant in the SLC39A13 gene that changes a glycine to an aspartate.

▶

ClinVar annotation

Pathogenic★☆☆☆
4 submitters4 publications

Ehlers-Danlos syndrome, spondylocheirodysplastic type

View on ClinVar →

About SLC39A13

This gene encodes a member of the LIV-1 subfamily of the ZIP transporter family. The encoded transmembrane protein functions as a zinc transporter. Mutations in this gene have been associated with the spondylocheiro dysplastic form of Ehlers-Danlos syndrome. Alternate transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]

View all SLC39A13 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…