Gene entry
HEXB
hexosaminidase subunit beta
- Chromosome
- 5
- Cytoband
- 5q13.3
- Variants (rsID)
- 35
HEXB is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q13.3). Its official name is “hexosaminidase subunit beta”. The reference table lists 35 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs114661695Benignsingle nucleotide variantSandhoff disease
- rs147155126Conflicting interpretationssingle nucleotide variantSandhoff disease
- rs761197472Conflicting interpretationssingle nucleotide variantSandhoff disease
- rs121907985Likely pathogenicsingle nucleotide variantSandhoff disease, chronic|Sandhoff disease
- rs121907983Pathogenicsingle nucleotide variantSandhoff disease, adult form|Sandhoff disease
- rs121907986Pathogenicsingle nucleotide variantSandhoff disease, infantile form|Sandhoff disease
- rs28942073Pathogenicsingle nucleotide variantSandhoff disease, juvenile form|Sandhoff disease, adult form|Sandhoff disease|See cases
- rs121907982Uncertain significancesingle nucleotide variantSandhoff disease, juvenile form|Sandhoff disease
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.