NM_001032386.2(SUOX):c.1501C>A (p.Gln501Lys) AND Isolated sulfite oxidase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 27, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001342868.1
Allele description
NM_001032386.2(SUOX):c.1501C>A (p.Gln501Lys)
Condition(s)
- Name:
- Isolated sulfite oxidase deficiency (ISOD)
- Synonyms:
- Sulfocysteinuria
- Identifiers:
- MONDO: MONDO:0010089; MedGen: C2931746; Orphanet: 833; OMIM: 272300; Human Phenotype Ontology: HP:0032350
Assertion and evidence details
Last Updated: Apr 23, 2022