NM_014251.3(SLC25A13):c.550C>T (p.Arg184Ter) AND Citrullinemia, type II, adult-onset
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003466867.1
Allele description [Variation Report for NM_014251.3(SLC25A13):c.550C>T (p.Arg184Ter)]
NM_014251.3(SLC25A13):c.550C>T (p.Arg184Ter)
Condition(s)
Assertion and evidence details
Last Updated: May 12, 2024