Variant (rsID / SNP)
rs786204585
rs786204585 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HEXA. Location: chromosome 15, position 72,636,480. 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
- 15:72636480
- Cytoband
- 15q23
- HGVS
- NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter)
- Allele change
- Nonsense_R521X
Associated conditions / phenotypes
Tay-Sachs disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.