rs1263117093

This variant is located in the SPIRE1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About SPIRE1

Spire proteins, such as SPIRE1, are highly conserved between species. They belong to the family of Wiskott-Aldrich homology region-2 (WH2) proteins, which are involved in actin organization (Kerkhoff et al., 2001 [PubMed 11747823]).[supplied by OMIM, Mar 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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