Variant (rsID / SNP)
rs387906309
rs387906309 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HEXA. Location: chromosome 15, position 72,638,920. Clinical significance in the table: Pathogenic.
Reference-table entries
HEXAPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 15:72638920
- Cytoband
- 15q23
- HGVS
- NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)
Associated conditions / phenotypes
Tay-Sachs disease|Inborn genetic diseases|Tay-Sachs disease, variant AB|Tay-Sachs disease|Intellectual disability
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.