NM_000116.5(TAFAZZIN):c.255C>T (p.Arg85=) AND 3-Methylglutaconic aciduria type 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 14, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003838362.1
Allele description [Variation Report for NM_000116.5(TAFAZZIN):c.255C>T (p.Arg85=)]
NM_000116.5(TAFAZZIN):c.255C>T (p.Arg85=)
Condition(s)
- Name:
- 3-Methylglutaconic aciduria type 2 (BTHS)
- Synonyms:
- Barth syndrome; 3-methylglutaconicaciduria type II; MGA type II; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010543; MedGen: C0574083; Orphanet: 111; OMIM: 302060
-
txid979214[Organism] (2)
BioProject
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See more...Assertion and evidence details
Last Updated: Aug 11, 2024