Variant (rsID / SNP)
rs386833600
rs386833600 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OAT. Location: chromosome 10, position 126,100,548. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
OATConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- Microsatellite
- Chromosome / position
- 10:126100548
- Cytoband
- 10q26.13
- HGVS
- NM_000274.4(OAT):c.192_193del (p.Gly65fs)
Associated conditions / phenotypes
Ornithine aminotransferase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.