Variant (rsID / SNP)
rs117160567
rs117160567 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HEXA. Location: chromosome 15, position 72,643,444. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
HEXABenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:72643444
- Cytoband
- 15q23
- HGVS
- NM_000520.6(HEXA):c.672+30T>G
- Allele change
- Silent
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.