Variant (rsID / SNP)

rs121907953

rs121907953 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HEXA. Location: chromosome 15, position 72,645,447. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

HEXALikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:72645447
Cytoband: 15q23
HGVS: NM_000520.6(HEXA):c.532C>T (p.Arg178Cys)
Allele change: Missense_R189C

Associated conditions / phenotypes

Tay-Sachs disease, B1 variant|HEXA, Czechoslovakian allele|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.