Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

OBSL1

obscurin like cytoskeletal adaptor 1

Chromosome
2
Cytoband
2q35
Variants (rsID)
30

OBSL1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q35). Its official name is “obscurin like cytoskeletal adaptor 1”. The reference table lists 30 variants (rsID) for this gene.

Clinically classified variants

17 reference-table entries with clinical significance.

  • rs115283876Benignsingle nucleotide variant3M syndrome 2
  • rs140214067Benignsingle nucleotide variant3M syndrome 2
  • rs142650279Benignsingle nucleotide variant3M syndrome 2
  • rs145485683Benignsingle nucleotide variant3M syndrome 2
  • rs147543583Benignsingle nucleotide variant3M syndrome 2
  • rs181520135Benignsingle nucleotide variant3M syndrome 2
  • rs183329050Benignsingle nucleotide variant3M syndrome 2
  • rs186692362Benignsingle nucleotide variant3M syndrome 2
  • rs1983210Benignsingle nucleotide variant3M syndrome 2
  • rs200780633Benignsingle nucleotide variant3M syndrome 2
  • rs3183099Benignsingle nucleotide variant3M syndrome 2
  • rs35009641Benignsingle nucleotide variant3M syndrome 2
  • rs61732788Benignsingle nucleotide variant3M syndrome 2
  • rs72957510Benignsingle nucleotide variant3M syndrome 2
  • rs116131367Conflicting interpretationssingle nucleotide variant3M syndrome 2
  • rs79295927Conflicting interpretationssingle nucleotide variant3M syndrome 2
  • rs762334954PathogenicDuplication3M syndrome 2

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.