rs375665750

This variant is located in the IP6K1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter

not specified

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About IP6K1

This gene encodes a member of the inositol phosphokinase family. The encoded protein may be responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011]

View all IP6K1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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