NM_000116.5(TAFAZZIN):c.314C>T (p.Thr105Ile) AND 3-Methylglutaconic aciduria type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003876019.1
Allele description [Variation Report for NM_000116.5(TAFAZZIN):c.314C>T (p.Thr105Ile)]
NM_000116.5(TAFAZZIN):c.314C>T (p.Thr105Ile)
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
Assertion and evidence details
Last Updated: Mar 5, 2024