Variant (rsID / SNP)

rs138058578

rs138058578 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HEXA. Location: chromosome 15, position 72,642,919. Clinical significance in the table: Benign; other.

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Reference-table entries

HEXABenign

Clinical significance (as recorded): Benign; other
Variant type: single nucleotide variant
Chromosome / position: 15:72642919
Cytoband: 15q23
HGVS: NM_000520.4(HEXA):c.745C>T (p.Arg249Trp)
Allele change: Missense_R260W

Associated conditions / phenotypes

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.