NM_020806.5(GPHN):c.800A>G (p.Asn267Ser) AND Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 30, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001084970.7
Allele description [Variation Report for NM_020806.5(GPHN):c.800A>G (p.Asn267Ser)]
NM_020806.5(GPHN):c.800A>G (p.Asn267Ser)
Condition(s)
Assertion and evidence details
Last Updated: Aug 4, 2024