Variant (rsID / SNP)

rs74887188

rs74887188 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GALC. Location: chromosome 14, position 88,431,969. Clinical significance in the table: Benign.

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Reference-table entries

GALCBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:88431969
Cytoband: 14q31.3
HGVS: NM_000153.4(GALC):c.913A>G (p.Ile305Val)
Allele change: Missense_I282V

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.