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Variant (rsID / SNP)

rs121907973

HEXA

rs121907973 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HEXA. Location: chromosome 15, position 72,643,556. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

HEXAConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:72643556
Cytoband
15q23
HGVS
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr)
Allele change
Missense_K208T

Associated conditions / phenotypes

Gm2-gangliosidosis, late onset|Tay-Sachs disease

Public references

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