Variant (rsID / SNP)
rs199531052
rs199531052 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DGUOK. Location: chromosome 2, position 74,173,839. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
DGUOKConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:74173839
- Cytoband
- 2p13.1
- HGVS
- NM_080916.3(DGUOK):c.256-7C>T
- Allele change
- Silent
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
