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Gene entry

COG6

component of oligomeric golgi complex 6

Chromosome
13
Cytoband
13q14.11
Variants (rsID)
23

COG6 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 13 (region 13q14.11). Its official name is “component of oligomeric golgi complex 6”. The reference table lists 23 variants (rsID) for this gene.

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Clinically classified variants

7 reference-table entries with clinical significance.

  • rs114044193Benignsingle nucleotide variantCOG6-ongenital disorder of glycosylation|Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • rs41286961Benignsingle nucleotide variantCOG6-ongenital disorder of glycosylation|COG6-ongenital disorder of glycosylation|Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • rs117688574Conflicting interpretationssingle nucleotide variantCOG6-ongenital disorder of glycosylation|COG6-ongenital disorder of glycosylation|Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • rs146229425Conflicting interpretationssingle nucleotide variantCOG6-ongenital disorder of glycosylation|COG6-ongenital disorder of glycosylation|Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • rs147311831Conflicting interpretationssingle nucleotide variantCOG6-ongenital disorder of glycosylation|COG6-ongenital disorder of glycosylation|Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • rs370228676Conflicting interpretationssingle nucleotide variantCOG6-ongenital disorder of glycosylation|COG6-ongenital disorder of glycosylation|Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • rs730882236Pathogenicsingle nucleotide variantHypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome|Hypohidrosis|Intellectual disability|COG6-related disorder|COG6-ongenital disorder of glycosylation

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.