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Variant (rsID / SNP)

rs121907970

HEXA

rs121907970 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HEXA. Location: chromosome 15, position 72,642,925. Clinical significance in the table: Conflicting interpretations of pathogenicity; other.

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Reference-table entries

HEXAConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity; other
Variant type
single nucleotide variant
Chromosome / position
15:72642925
Cytoband
15q23
HGVS
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp)
Allele change
Missense_R258W

Associated conditions / phenotypes

Beta-hexosaminidase a, pseudodeficiency of|Tay-Sachs disease

Public references

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