Variant (rsID / SNP)

rs121907966

rs121907966 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HEXA. Location: chromosome 15, position 72,637,818. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

HEXAPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:72637818
Cytoband: 15q23
HGVS: NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys)
Allele change: Missense_R510C

Associated conditions / phenotypes

Gm2-gangliosidosis, adult-onset|Tay-Sachs 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.