Variant (rsID / SNP)
rs143694860
rs143694860 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GALE. Location: chromosome 1, position 24,122,717. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
GALEBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:24122717
- Cytoband
- 1p36.11
- HGVS
- NM_001008216.2(GALE):c.912G>A (p.Val304=)
- Allele change
- Synonymous_V304V
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.