Variant (rsID / SNP)

rs121907982

rs121907982 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HEXB. Location: chromosome 5, position 74,014,746. Clinical significance in the table: Uncertain significance.

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Reference-table entries

HEXBUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:74014746
Cytoband: 5q13.3
HGVS: NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser)
Allele change: Missense_Y231S

Associated conditions / phenotypes

Sandhoff disease, juvenile form|Sandhoff disease

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.