rs978781196

This variant is located in the SP7 gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

Osteogenesis imperfecta type 12; not specified

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About SP7

This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein is a bone specific transcription factor and is required for osteoblast differentiation and bone formation.[provided by RefSeq, Jul 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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