Variant (rsID / SNP)
rs28941770
rs28941770 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HEXA. Location: chromosome 15, position 72,645,446. Clinical significance in the table: Pathogenic.
Reference-table entries
HEXAPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:72645446
- Cytoband
- 15q23
- HGVS
- NM_000520.6(HEXA):c.533G>A (p.Arg178His)
- Allele change
- Missense_R189H
Associated conditions / phenotypes
Hexa, dn allele|Tay-Sachs disease, B1 variant|Tay-Sachs disease|Global developmental delay|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.