NM_000116.5(TAFAZZIN):c.110-15C>G AND 3-Methylglutaconic aciduria type 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 8, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003091282.10
Allele description [Variation Report for NM_000116.5(TAFAZZIN):c.110-15C>G]
NM_000116.5(TAFAZZIN):c.110-15C>G
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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retinol dehydrogenase 16 [Mus musculus]
retinol dehydrogenase 16 [Mus musculus]gi|6677697|ref|NP_033066.1|Protein
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Mus musculus zinc finger and BTB domain containing 7B, mRNA (cDNA clone MGC:5138...
Mus musculus zinc finger and BTB domain containing 7B, mRNA (cDNA clone MGC:51385 IMAGE:4946243), complete cdsgi|28386106|gb|BC046533.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 26, 2024