rs1388285232

This variant is located in the SLC51A gene.

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ClinVar annotation

Pathogenic
2 submitters1 publication

Cholestasis, progressive familial intrahepatic, 6

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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