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.
