Gene entry
HEXA
hexosaminidase subunit alpha
- Chromosome
- 15
- Cytoband
- 15q23
- Variants (rsID)
- 39
HEXA is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 15 (region 15q23). Its official name is “hexosaminidase subunit alpha”. The reference table lists 39 variants (rsID) for this gene.
Clinically classified variants
36 reference-table entries with clinical significance.
- rs117160567Benignsingle nucleotide variantTay-Sachs disease
- rs138058578Benignsingle nucleotide variantTay-Sachs disease
- rs121907970Conflicting interpretationssingle nucleotide variantBeta-hexosaminidase a, pseudodeficiency of|Tay-Sachs disease
- rs121907973Conflicting interpretationssingle nucleotide variantGm2-gangliosidosis, late onset|Tay-Sachs disease
- rs121907977Conflicting interpretationssingle nucleotide variantTay-Sachs disease|Tay-Sachs disease, variant AB|Tay-Sachs disease
- rs145012038Conflicting interpretationssingle nucleotide variantTay-Sachs disease
- rs199914308Conflicting interpretationssingle nucleotide variantTay-Sachs disease
- rs121907953Likely pathogenicsingle nucleotide variantTay-Sachs disease, B1 variant|HEXA, Czechoslovakian allele|Tay-Sachs disease
- rs121907959Likely pathogenicsingle nucleotide variantTay-sachs disease, juvenile|Tay-Sachs disease
- rs762374961Likely pathogenicsingle nucleotide variantTay-Sachs disease
- rs121907952Pathogenicsingle nucleotide variantTay-Sachs disease
- rs121907954Pathogenicsingle nucleotide variantGm2-gangliosidosis, adult|Tay-Sachs disease|Gm2-gangliosidosis, late onset
- rs121907955Pathogenicsingle nucleotide variantGm2-gangliosidosis, juvenile|Tay-Sachs disease
- rs121907956Pathogenicsingle nucleotide variantGm2-gangliosidosis, juvenile|Inborn genetic diseases|Tay-Sachs disease
- rs121907957Pathogenicsingle nucleotide variantTay-Sachs disease
- rs121907958Pathogenicsingle nucleotide variantTay-Sachs disease
- rs121907966Pathogenicsingle nucleotide variantGm2-gangliosidosis, adult-onset|Tay-Sachs disease
- rs121907972Pathogenicsingle nucleotide variantTay-Sachs disease
- rs121907980Pathogenicsingle nucleotide variantTay-Sachs disease
- rs147324677Pathogenicsingle nucleotide variantTay-Sachs disease
- rs150675340Pathogenicsingle nucleotide variantTay-Sachs disease
- rs185429231Pathogenicsingle nucleotide variantTay-Sachs disease
- rs28941770Pathogenicsingle nucleotide variantHexa, dn allele|Tay-Sachs disease, B1 variant|Tay-Sachs disease|Global developmental delay|See cases
- rs28942071Pathogenicsingle nucleotide variantGm2-gangliosidosis, chronic|Tay-Sachs disease
- rs370266293Pathogenicsingle nucleotide variantTay-Sachs disease
- rs387906309PathogenicDuplicationTay-Sachs disease|Inborn genetic diseases|Tay-Sachs disease, variant AB|Tay-Sachs disease|Intellectual disability
- rs387906311Pathogenicsingle nucleotide variantTay-sachs disease, juvenile/adult|Tay-Sachs disease
- rs76173977Pathogenicsingle nucleotide variantTay-Sachs disease
- rs762060470Pathogenicsingle nucleotide variantTay-Sachs disease
- rs767041069Pathogenicsingle nucleotide variantTay-Sachs disease
- rs772180415Pathogenicsingle nucleotide variantTay-Sachs disease
- rs786204585Pathogenicsingle nucleotide variantTay-Sachs disease
- rs786204721Pathogenicsingle nucleotide variantTay-Sachs disease
- rs797044432Pathogenicsingle nucleotide variantTay-Sachs disease
- rs1800429Uncertain significancesingle nucleotide variantTay-Sachs disease
- rs191330716Uncertain significancesingle nucleotide variantTay-Sachs 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.