Variant (rsID / SNP)
rs752537626
rs752537626 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GALC. Location: chromosome 14, position 88,407,873. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
GALCPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:88407873
- Cytoband
- 14q31.3
- HGVS
- NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser)
- Allele change
- Missense_Y544S
Associated conditions / phenotypes
Galactosylceramide beta-galactosidase deficiency|Inborn genetic diseases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.