NM_000116.5(TAFAZZIN):c.606G>C (p.Glu202Asp) AND 3-Methylglutaconic aciduria type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 21, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000703717.4
Allele description [Variation Report for NM_000116.5(TAFAZZIN):c.606G>C (p.Glu202Asp)]
NM_000116.5(TAFAZZIN):c.606G>C (p.Glu202Asp)
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
-
Synthetic construct Homo sapiens clone IMAGE:100069117, MGC:199128 REV3-like, ca...
Synthetic construct Homo sapiens clone IMAGE:100069117, MGC:199128 REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L) mRNA, encodes complete proteingi|225000507|gb|BC172423.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024