NM_001032386.2(SUOX):c.1312_1313del (p.Val438fs) AND Sulfite oxidase deficiency
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001943502.6
Allele description [Variation Report for NM_001032386.2(SUOX):c.1312_1313del (p.Val438fs)]
NM_001032386.2(SUOX):c.1312_1313del (p.Val438fs)
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
Assertion and evidence details
Last Updated: Feb 14, 2024