NM_001358530.2(MOCS1):c.1362C>T (p.Asp454=) AND Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Nov 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001151491.5
Allele description [Variation Report for NM_001358530.2(MOCS1):c.1362C>T (p.Asp454=)]
NM_001358530.2(MOCS1):c.1362C>T (p.Asp454=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024