Variant (rsID / SNP)

rs72554307

rs72554307 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTC. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

OTCPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.4
HGVS: NM_000531.6(OTC):c.118C>T (p.Arg40Cys)
Allele change: Missense_R40C

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.