rs371727466

This variant is located in the PITPNC1 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About PITPNC1

This gene encodes a member of the phosphatidylinositol transfer protein family. The encoded cytoplasmic protein plays a role in multiple processes including cell signaling and lipid metabolism by facilitating the transfer of phosphatidylinositol between membrane compartments. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, May 2012]

View all PITPNC1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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