Variant (rsID / SNP)

rs1800321

rs1800321 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTC. Clinical significance in the table: Benign.

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Reference-table entries

OTCBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xp11.4
HGVS: NM_000531.6(OTC):c.137A>G (p.Lys46Arg)
Allele change: Missense_K46R

Associated conditions / phenotypes

ORNITHINE TRANSCARBAMYLASE POLYMORPHISM|Ornithine carbamoyltransferase deficiency|History of neurodevelopmental disorder

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.