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rs72558436 has not been reported to ClinVar. Refer to dbSNP record rs72558436 for details on variation at this location. Please consider submitting your interpretation of this variant to ClinVar

Genetic variation

rs72558436

  • Clinical significance: not reported in ClinVar
  • Reference allele: T
  • Variation alleles: A, C
  • Variation type: single nucleotide variation
  • Organism: Homo sapiens
  • GRCh38.p14: NC_000023.11: 38,408,888
  • GRCh37.p13: NC_000023.10: 38,268,141
Genome Data Viewer

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OTC
(L244P)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GLikely pathogenic
OTC
(L244Q)
Single nucleotide variant
(missense variant)
not provided
GPathogenic