NM_001032386.2(SUOX):c.875G>A (p.Arg292His) AND Sulfite oxidase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001985652.6
Allele description [Variation Report for NM_001032386.2(SUOX):c.875G>A (p.Arg292His)]
NM_001032386.2(SUOX):c.875G>A (p.Arg292His)
Condition(s)
- Name:
- Sulfite oxidase deficiency
- Synonyms:
- Isolated sulfite oxidase deficiency
- Identifiers:
- MONDO: MONDO:0010089; MedGen: C0268624; Orphanet: 833; OMIM: 272300; Human Phenotype Ontology: HP:0003643
-
Itgb5 integrin beta 5 [Mus musculus]
Itgb5 integrin beta 5 [Mus musculus]Gene ID:16419Gene
-
16419[uid] AND (alive[prop]) (1)
Gene
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Last Updated: Sep 29, 2024