Variant (rsID / SNP)
rs137853861
rs137853861 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GALE. Location: chromosome 1, position 24,122,724. The table records no clinical significance for this variant.
Reference-table entries
GALENot classified
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:24122724
- Cytoband
- 1p36.11
- HGVS
- NM_001008216.2(GALE):c.905G>A (p.Gly302Asp)
- Allele change
- Missense_G302D
Associated conditions / phenotypes
UDPglucose-4-epimerase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
