NM_001032386.2(SUOX):c.229-18C>T AND Sulfite oxidase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 17, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003524474.2
Allele description [Variation Report for NM_001032386.2(SUOX):c.229-18C>T]
NM_001032386.2(SUOX):c.229-18C>T
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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PH-interacting protein [Homo sapiens]
PH-interacting protein [Homo sapiens]gi|34996489|ref|NP_060404.3|Protein
-
Mus musculus fractured callus expressed transcript 1 (Fxc1), mRNA
Mus musculus fractured callus expressed transcript 1 (Fxc1), mRNAgi|9507186|ref|NM_019502.1|Nucleotide
-
MAG: Nitrospirae bacterium RIFCSPLOWO2_12_FULL_63_8 rifcsplowo2_12_scaffold_1027...
MAG: Nitrospirae bacterium RIFCSPLOWO2_12_FULL_63_8 rifcsplowo2_12_scaffold_102739, whole genome shotgun sequencegi|1085559528|gb|MHEV01000009.1||gn :MHEV01|rifcsplowo2_12_scaffold_102739Nucleotide
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Last Updated: Sep 29, 2024