Variant (rsID / SNP)

rs121907956

rs121907956 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HEXA. Location: chromosome 15, position 72,637,817. Clinical significance in the table: Pathogenic.

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Reference-table entries

HEXAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:72637817
Cytoband: 15q23
HGVS: NM_000520.6(HEXA):c.1496G>A (p.Arg499His)
Allele change: Missense_R510H

Associated conditions / phenotypes

Gm2-gangliosidosis, juvenile|Inborn genetic diseases|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.