Variant (rsID / SNP)

rs121965040

rs121965040 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OAT. Location: chromosome 10, position 126,094,114. 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: 10:126094114
Cytoband: 10q26.13
HGVS: NM_000274.4(OAT):c.539G>C (p.Arg180Thr)
Allele change: Missense_R180T

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.