Variant (rsID / SNP)
rs114661695
rs114661695 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HEXB. Location: chromosome 5, position 74,011,484. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
HEXBBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:74011484
- Cytoband
- 5q13.3
- HGVS
- NM_000521.4(HEXB):c.1051T>C (p.Leu351=)
- Allele change
- Synonymous_L126L
Associated conditions / phenotypes
Sandhoff disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.