Variant (rsID / SNP)

rs786204454

rs786204454 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GALC. Location: chromosome 14, position 88,431,927. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

GALCPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Deletion
Chromosome / position: 14:88431927
Cytoband: 14q31.3
HGVS: NM_000153.4(GALC):c.955del (p.Tyr319fs)

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.