rs2473686862

This variant is located in the SMC4 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About SMC4

This gene belongs to the 'structural maintenance of chromosomes' (SMC) gene family. Members of this gene family play a role in two changes in chromosome structure during mitotic segregation of chromosomes- chromosome condensation and sister chromatid cohesion. The protein encoded by this gene is likely a subunit of the 13S condensin complex, which is involved in chromosome condensation. A pseudogene related to this gene is located on chromosome 2. [provided by RefSeq, Jun 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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