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Gene entry

CENPJ

centrosome assembly and centriole elongation protein

Chromosome
13
Cytoband
13q12.12-q12.13
Variants (rsID)
21

CENPJ is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 13 (region 13q12.12-q12.13). Its official name is “centrosome assembly and centriole elongation protein”. The reference table lists 21 variants (rsID) for this gene.

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Clinically classified variants

14 reference-table entries with clinical significance.

  • rs112133852Benignsingle nucleotide variantSeckel syndrome 4|Microcephaly 6, primary, autosomal recessive
  • rs7336216Benignsingle nucleotide variantMicrocephaly 6, primary, autosomal recessive|Seckel syndrome 4
  • rs75008861Benignsingle nucleotide variantSeckel syndrome 4|Microcephaly 6, primary, autosomal recessive
  • rs113239817Conflicting interpretationssingle nucleotide variantMicrocephaly 6, primary, autosomal recessive|Seckel syndrome 4
  • rs138675304Conflicting interpretationssingle nucleotide variantMicrocephaly 6, primary, autosomal recessive|Seckel syndrome 4
  • rs140564566Conflicting interpretationssingle nucleotide variantMicrocephaly 6, primary, autosomal recessive|Seckel syndrome 4
  • rs143258862Conflicting interpretationssingle nucleotide variantSeckel syndrome 4|Microcephaly 6, primary, autosomal recessive
  • rs144938364Conflicting interpretationssingle nucleotide variantMicrocephaly 6, primary, autosomal recessive|Seckel syndrome 1|Seckel syndrome 4
  • rs527997591Conflicting interpretationssingle nucleotide variantSeckel syndrome 4|Microcephaly 6, primary, autosomal recessive
  • rs201088712Likely pathogenicsingle nucleotide variantSeckel syndrome 4
  • rs202058504Pathogenicsingle nucleotide variantMicrocephaly 6, primary, autosomal recessive|Microcephaly 6, primary, autosomal recessive|Seckel syndrome 4
  • rs201508087Uncertain significancesingle nucleotide variantSeckel syndrome 4|Microcephaly 6, primary, autosomal recessive
  • rs34177811Uncertain significancesingle nucleotide variantMicrocephaly 6, primary, autosomal recessive
  • rs41306027Uncertain significancesingle nucleotide variantMicrocephaly 6, primary, autosomal recessive|Seckel syndrome 4

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.