NM_014251.3(SLC25A13):c.1088G>T (p.Gly363Val) 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:
- RCV000350029.6
Allele description [Variation Report for NM_014251.3(SLC25A13):c.1088G>T (p.Gly363Val)]
NM_014251.3(SLC25A13):c.1088G>T (p.Gly363Val)
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
-
LOC122128441 [Homo sapiens]
LOC122128441 [Homo sapiens]Gene ID:122128441Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024