NM_001032386.2(SUOX):c.1276C>T (p.Gln426Ter) AND Sulfite oxidase deficiency
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003638952.2
Allele description [Variation Report for NM_001032386.2(SUOX):c.1276C>T (p.Gln426Ter)]
NM_001032386.2(SUOX):c.1276C>T (p.Gln426Ter)
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
-
nuclear receptor 8 [Magallana gigas]
nuclear receptor 8 [Magallana gigas]gi|818946855|gb|AKG49571.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024