rs148165667

This variant is located in the SLC39A13 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter1 publication

Ehlers-Danlos syndrome, spondylocheirodysplastic type

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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