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Gene entry

HEPACAM

hepatic and glial cell adhesion molecule

Chromosome
11
Cytoband
11q24.2
Variants (rsID)
8

HEPACAM is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11q24.2). Its official name is “hepatic and glial cell adhesion molecule”. The reference table lists 8 variants (rsID) for this gene.

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Clinically classified variants

5 reference-table entries with clinical significance.

  • rs10790715Benignsingle nucleotide variantMegalencephalic leukoencephalopathy with subcortical cysts|Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability|Megalencephalic leukoencephalopathy with subcortical cysts 2A
  • rs3802904Benignsingle nucleotide variantMegalencephalic leukoencephalopathy with subcortical cysts
  • rs6590110Benignsingle nucleotide variantMegalencephalic leukoencephalopathy with subcortical cysts
  • rs74570840Benignsingle nucleotide variantMegalencephalic leukoencephalopathy with subcortical cysts
  • rs387907053Pathogenicsingle nucleotide variantMegalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability|Megalencephalic leukoencephalopathy with subcortical cysts 2A

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.