Variant (rsID / SNP)
rs147155126
rs147155126 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HEXB. Location: chromosome 5, position 73,981,299. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
HEXBConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:73981299
- Cytoband
- 5q13.3
- HGVS
- NM_000521.4(HEXB):c.214C>T (p.Leu72Phe)
- Allele change
- Silent
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.