NM_001482.3(GATM):c.61G>A (p.Gly21Arg) AND Arginine:glycine amidinotransferase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002039315.5
Allele description [Variation Report for NM_001482.3(GATM):c.61G>A (p.Gly21Arg)]
NM_001482.3(GATM):c.61G>A (p.Gly21Arg)
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
-
Related DataSets for GEO Profiles (Select 54019311) (1)
GEO DataSets
-
Tibolone hormone effect on postmenopausal endometrium
Tibolone hormone effect on postmenopausal endometriumAccession: GDS3313GEO DataSets
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024