NM_001482.3(GATM):c.1088T>C (p.Leu363Ser) AND Arginine:glycine amidinotransferase deficiency
- Germline classification:
- Uncertain significance (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:
- RCV001121789.4
Allele description [Variation Report for NM_001482.3(GATM):c.1088T>C (p.Leu363Ser)]
NM_001482.3(GATM):c.1088T>C (p.Leu363Ser)
Condition(s)
- Name:
- Arginine:glycine amidinotransferase deficiency (CCDS3)
- Synonyms:
- AGAT deficiency; Creatine deficiency syndrome due to AGAT deficiency; GATM deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012996; MedGen: C2675179; Orphanet: 35704; OMIM: 612718
Assertion and evidence details
Last Updated: Apr 9, 2023