NM_014251.3(SLC25A13):c.1945G>C (p.Gly649Arg) AND Citrullinemia type I
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000271327.6
Allele description [Variation Report for NM_014251.3(SLC25A13):c.1945G>C (p.Gly649Arg)]
NM_014251.3(SLC25A13):c.1945G>C (p.Gly649Arg)
Condition(s)
- Name:
- Citrullinemia type I (CTNL1)
- Synonyms:
- Classic citrullinemia; ASS deficiency; Citrullinemia 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008988; MedGen: C4721769; Orphanet: 247525; OMIM: 215700
Assertion and evidence details
Last Updated: May 1, 2024