Variant (rsID / SNP)

rs121907985

rs121907985 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HEXB. Location: chromosome 5, position 74,016,469. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

HEXBLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:74016469
Cytoband: 5q13.3
HGVS: NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser)
Allele change: Missense_P279S

Associated conditions / phenotypes

Sandhoff disease, chronic|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.