NM_001032386.2(SUOX):c.1623C>T (p.Val541=) AND Sulfite oxidase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 31, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003639675.2
Allele description [Variation Report for NM_001032386.2(SUOX):c.1623C>T (p.Val541=)]
NM_001032386.2(SUOX):c.1623C>T (p.Val541=)
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
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RNA polymerase beta'' subunit, partial (chloroplast) [Campanula rapunculus]
RNA polymerase beta'' subunit, partial (chloroplast) [Campanula rapunculus]gi|2305098822|gb|UXB53874.1|Protein
-
RecName: Full=SPARC-related modular calcium-binding protein 2; AltName: Full=Sec...
RecName: Full=SPARC-related modular calcium-binding protein 2; AltName: Full=Secreted modular calcium-binding protein 2; Short=SMOC-2; AltName: Full=Smooth muscle-associated protein 2; Short=SMAP-2; Flags: Precursorgi|38258648|sp|Q9H3U7.2|SMOC2_HUMANProtein
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Last Updated: Sep 29, 2024