Variant (rsID / SNP)

rs185429231

rs185429231 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HEXA. Location: chromosome 15, position 72,643,576. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

HEXAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:72643576
Cytoband: 15q23
HGVS: NM_000520.6(HEXA):c.571-1G>T
Allele change: Silent

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.