NM_001482.3(GATM):c.*104A>G AND Arginine:glycine amidinotransferase deficiency
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jun 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000301010.6
Allele description [Variation Report for NM_001482.3(GATM):c.*104A>G]
NM_001482.3(GATM):c.*104A>G
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
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PREDICTED: Papio anubis glucosaminyl (N-acetyl) transferase 4 (GCNT4), transcrip...
PREDICTED: Papio anubis glucosaminyl (N-acetyl) transferase 4 (GCNT4), transcript variant X5, mRNAgi|1777324528|ref|XM_031666235.1|Nucleotide
-
PREDICTED: Otolemur garnettii UDP-glucuronosyltransferase 2B31-like (LOC10095351...
PREDICTED: Otolemur garnettii UDP-glucuronosyltransferase 2B31-like (LOC100953514), transcript variant X2, mRNAgi|1327820059|ref|XM_012812152.2|Nucleotide
-
PREDICTED: Ursus americanus uromodulin (UMOD), mRNA
PREDICTED: Ursus americanus uromodulin (UMOD), mRNAgi|2176706145|ref|XM_045770905.1|Nucleotide
-
SAMN24724717 (1)
SRA
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Last Updated: Apr 9, 2023