NM_014251.3(SLC25A13):c.1374G>A (p.Val458=) AND Citrullinemia type II
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001165296.5
Allele description [Variation Report for NM_014251.3(SLC25A13):c.1374G>A (p.Val458=)]
NM_014251.3(SLC25A13):c.1374G>A (p.Val458=)
Condition(s)
- Name:
- Citrullinemia type II
- Synonyms:
- Citrullinemia type 2
- Identifiers:
- MONDO: MONDO:0016603; MedGen: C1863844
Assertion and evidence details
Last Updated: Sep 29, 2024