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Variant (rsID / SNP)

rs147313927

GALC

rs147313927 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GALC. Location: chromosome 14, position 88,452,941. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GALCConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:88452941
Cytoband
14q31.3
HGVS
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)
Allele change
Missense_T89A

Associated conditions / phenotypes

Galactosylceramide beta-galactosidase deficiency

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.