Variant (rsID / SNP)

rs121907983

rs121907983 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HEXB. Location: chromosome 5, position 74,016,473. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

HEXBPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:74016473
Cytoband: 5q13.3
HGVS: NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln)
Allele change: Missense_R280Q

Associated conditions / phenotypes

Sandhoff disease, adult 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.