Variant (rsID / SNP)

rs72556279

rs72556279 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTC. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

OTCPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.4
HGVS: NM_000531.6(OTC):c.514A>T (p.Ile172Phe)
Allele change: Missense_I172F

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.