Variant (rsID / SNP)

rs72554348

rs72554348 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTC. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

OTCBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xp11.4
HGVS: NM_000531.6(OTC):c.298+5G>C
Allele change: Silent

Associated conditions / phenotypes

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.