NM_000116.5(TAFAZZIN):c.267C>T (p.Asn89=) AND 3-Methylglutaconic aciduria type 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003093660.2
Allele description [Variation Report for NM_000116.5(TAFAZZIN):c.267C>T (p.Asn89=)]
NM_000116.5(TAFAZZIN):c.267C>T (p.Asn89=)
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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GEO Profile Links for Gene (Select 105379477) (21)
GEO Profiles
-
"Ambry Genetics"[submitter] AND "P4HA3-AS1"[gene] (4)
ClinVar
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024