NM_000116.5(TAFAZZIN):c.227C>G (p.Pro76Arg) AND 3-Methylglutaconic aciduria type 2
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 10, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000230434.1
Allele description [Variation Report for NM_000116.5(TAFAZZIN):c.227C>G (p.Pro76Arg)]
NM_000116.5(TAFAZZIN):c.227C>G (p.Pro76Arg)
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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T-cell surface glycoprotein CD3 delta chain isoform A precursor [Homo sapiens]
T-cell surface glycoprotein CD3 delta chain isoform A precursor [Homo sapiens]gi|4502669|ref|NP_000723.1|Protein
-
uncharacterized protein AT1G53620 [Arabidopsis thaliana]
uncharacterized protein AT1G53620 [Arabidopsis thaliana]gi|79365197|ref|NP_175767.2|Protein
-
caprin-1 isoform 2 [Homo sapiens]
caprin-1 isoform 2 [Homo sapiens]gi|42734503|ref|NP_976240.1|Protein
-
PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 [Macaca mulatta]
PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 [Macaca mulatta]Gene ID:693509Gene
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See more...Assertion and evidence details
Last Updated: Apr 23, 2022