NM_000116.5(TAFAZZIN):c.127A>T (p.Thr43Ser) AND 3-Methylglutaconic aciduria type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 22, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003054584.2
Allele description [Variation Report for NM_000116.5(TAFAZZIN):c.127A>T (p.Thr43Ser)]
NM_000116.5(TAFAZZIN):c.127A>T (p.Thr43Ser)
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
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POU6F2 POU class 6 homeobox 2 [Homo sapiens]
POU6F2 POU class 6 homeobox 2 [Homo sapiens]Gene ID:11281Gene
-
Gene Links for GEO Profiles (Select 7852457) (1)
Gene
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Last Updated: Feb 20, 2024