rs192475271

This variant is located in the SLC51A gene.

▶

ClinVar annotation

Likely Benign

1 submitter

SLC51A-related disorder

About SLC51A

Predicted to enable protein heterodimerization activity; protein homodimerization activity; and transmembrane transporter activity. Involved in bile acid secretion. Located in basolateral plasma membrane. Implicated in progressive familial intrahepatic cholestasis. [provided by Alliance of Genome Resources, Jul 2025]

View all SLC51A 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…