Variant (rsID / SNP)

rs145012038

rs145012038 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HEXA. Location: chromosome 15, position 72,637,878. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

HEXAConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 15:72637878
Cytoband: 15q23
HGVS: NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr)
Allele change: Missense_A490T

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.