Gene entry
NBEAL2
neurobeachin like 2
- Chromosome
- 3
- Cytoband
- 3p21.31
- Variants (rsID)
- 12
NBEAL2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3p21.31). Its official name is “neurobeachin like 2”. The reference table lists 12 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs181413143Conflicting interpretationssingle nucleotide variantGray platelet syndrome|Thrombocytopenia|Abnormal bleeding
- rs201373710Conflicting interpretationssingle nucleotide variantGray platelet syndrome
- rs202209383Likely benignsingle nucleotide variantGray platelet syndrome
- rs117340996Uncertain significancesingle nucleotide variantGray platelet 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.