NM_001698.3(AUH):c.677G>A (p.Arg226His) AND 3-methylglutaconic aciduria type 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 14, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002766115.3
Allele description [Variation Report for NM_001698.3(AUH):c.677G>A (p.Arg226His)]
NM_001698.3(AUH):c.677G>A (p.Arg226His)
Condition(s)
- Name:
- 3-methylglutaconic aciduria type 1
- Synonyms:
- 3 methylglutaconic aciduria type I; MGA type I; 3 alpha methylglutaconic aciduria type I; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009610; MedGen: C0342727; Orphanet: 67046; OMIM: 250950
-
JGI_CAAR4195.rev NIH_XGC_tropLiv1 Xenopus tropicalis cDNA clone IMAGE:7736468 3'...
JGI_CAAR4195.rev NIH_XGC_tropLiv1 Xenopus tropicalis cDNA clone IMAGE:7736468 3', mRNA sequencegi|59203688|gnl|dbEST|27737797|gb|D 66.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024