NM_018161.5(NADSYN1):c.735T>A (p.Cys245Ter) AND Congenital NAD deficiency disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001078189.1
Allele description [Variation Report for NM_018161.5(NADSYN1):c.735T>A (p.Cys245Ter)]
NM_018161.5(NADSYN1):c.735T>A (p.Cys245Ter)
Condition(s)
- Name:
- Congenital NAD deficiency disorder
- Identifiers:
- MedGen: CN241975
Assertion and evidence details
Last Updated: Apr 23, 2022