NM_001482.3(GATM):c.48G>T (p.Ala16=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002505088.8
Allele description [Variation Report for NM_001482.3(GATM):c.48G>T (p.Ala16=)]
NM_001482.3(GATM):c.48G>T (p.Ala16=)
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
- Name:
- Fanconi renotubular syndrome 1
- Synonyms:
- FRTS1; Toni-Debre-Fanconi syndrome; Neonatal De Toni-Debre-Fanconi syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0024525; MedGen: C4551503; OMIM: 134600
Assertion and evidence details
Last Updated: Jun 2, 2024