Variant (rsID / SNP)

rs1057516453

rs1057516453 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GALC. Location: chromosome 14, position 88,406,270. Clinical significance in the table: Pathogenic.

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Reference-table entries

GALCPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:88406270
Cytoband: 14q31.3
HGVS: NM_000153.4(GALC):c.1890T>A (p.Tyr630Ter)
Allele change: Nonsense_Y607X

Associated conditions / phenotypes

Galactosylceramide beta-galactosidase deficiency

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.