Variant (rsID / SNP)

rs386833603

rs386833603 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OAT. Location: chromosome 10, position 126,097,462. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

OATUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 10:126097462
Cytoband: 10q26.13
HGVS: NM_000274.4(OAT):c.272G>A (p.Gly91Glu)
Allele change: Missense_G91E

Associated conditions / phenotypes

Ornithine aminotransferase deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.