Variant (rsID / SNP)

rs386833621

rs386833621 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OAT. Location: chromosome 10, position 126,090,357. Clinical significance in the table: Pathogenic.

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Reference-table entries

OATPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:126090357
Cytoband: 10q26.13
HGVS: NM_000274.4(OAT):c.952G>A (p.Glu318Lys)
Allele change: Missense_E318K

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.