Variant (rsID / SNP)
rs28940884
rs28940884 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GALE. Location: chromosome 1, position 24,123,212. Clinical significance in the table: Benign/Likely benign; other.
Reference-table entries
GALEBenign
- Clinical significance (as recorded)
- Benign/Likely benign; other
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:24123212
- Cytoband
- 1p36.11
- HGVS
- NM_001008216.2(GALE):c.770A>G (p.Lys257Arg)
- Allele change
- Missense_K257R
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.