Variant (rsID / SNP)

rs199847983

rs199847983 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GALC. Location: chromosome 14, position 88,434,730. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GALCPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:88434730
Cytoband: 14q31.3
HGVS: NM_000153.4(GALC):c.857G>A (p.Gly286Asp)
Allele change: Missense_G263D

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.