Variant (rsID / SNP)
rs121907957
rs121907957 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HEXA. Location: chromosome 15, position 72,645,470. 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
- 15:72645470
- Cytoband
- 15q23
- HGVS
- NM_000520.6(HEXA):c.509G>A (p.Arg170Gln)
- Allele change
- Missense_R181Q
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.