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Gene entry

EFEMP1

EGF-like fibulin extracellular matrix protein 1

Chromosome
2
Cytoband
2p16.1
Variants (rsID)
26

EFEMP1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2p16.1). Its official name is “EGF-like fibulin extracellular matrix protein 1”. The reference table lists 26 variants (rsID) for this gene.

Clinically classified variants

2 reference-table entries with clinical significance.

  • rs79563212Benignsingle nucleotide variantDoyne honeycomb retinal dystrophy
  • rs55849640Conflicting interpretationssingle nucleotide variantDoyne honeycomb retinal dystrophy

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.