Variant (rsID / SNP)

rs72558450

rs72558450 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTC. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

OTCLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.4
HGVS: NM_000531.6(OTC):c.806G>A (p.Gly269Glu)
Allele change: Missense_G269E

Associated conditions / phenotypes

Ornithine carbamoyltransferase 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.