Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

SHANK3

SH3 and multiple ankyrin repeat domains 3

Chromosome
22
Cytoband
22q13.33
Variants (rsID)
23

SHANK3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 22 (region 22q13.33). Its official name is “SH3 and multiple ankyrin repeat domains 3”. The reference table lists 23 variants (rsID) for this gene.

Clinically classified variants

7 reference-table entries with clinical significance.

  • rs117066889Benignsingle nucleotide variantHistory of neurodevelopmental disorder
  • rs182897668Benignsingle nucleotide variantHistory of neurodevelopmental disorder
  • rs191010623Benignsingle nucleotide variantHistory of neurodevelopmental disorder
  • rs200077311Benignsingle nucleotide variantHistory of neurodevelopmental disorder
  • rs200572899Benignsingle nucleotide variantHistory of neurodevelopmental disorder
  • rs61729471Benignsingle nucleotide variantHistory of neurodevelopmental disorder
  • rs9616915Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Phelan-McDermid syndrome

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.