Variant (rsID / SNP)

rs370266293

rs370266293 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HEXA. Location: chromosome 15, position 72,639,020. 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: 15:72639020
Cytoband: 15q23
HGVS: NM_000520.6(HEXA):c.1178G>C (p.Arg393Pro)
Allele change: Missense_R404Q

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.