Variant (rsID / SNP)
rs28942071
rs28942071 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HEXA. Location: chromosome 15, position 72,637,803. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
HEXAPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:72637803
- Cytoband
- 15q23
- HGVS
- NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys)
- Allele change
- Missense_R515C
Associated conditions / phenotypes
Gm2-gangliosidosis, chronic|Tay-Sachs disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.