Gene entry
EPB42
erythrocyte membrane protein band 4.2
- Chromosome
- 15
- Cytoband
- 15q15.2
- Variants (rsID)
- 5
EPB42 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 15 (region 15q15.2). Its official name is “erythrocyte membrane protein band 4.2”. The reference table lists 5 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs45498491Benignsingle nucleotide variantHereditary spherocytosis type 5
- rs114136713Conflicting interpretationssingle nucleotide variantHereditary spherocytosis type 5
- rs150481419Conflicting interpretationssingle nucleotide variantHereditary spherocytosis type 5
- rs45594632Conflicting interpretationssingle nucleotide variantHereditary spherocytosis type 5
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.