Variant (rsID / SNP)
rs121965047
rs121965047 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OAT. Location: chromosome 10, position 126,090,315. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
OATPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:126090315
- Cytoband
- 10q26.13
- HGVS
- NM_000274.4(OAT):c.994G>A (p.Val332Met)
- Allele change
- Missense_V332M
Associated conditions / phenotypes
Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia|Ornithine aminotransferase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.