NM_000116.5(TAFAZZIN):c.238+6C>T AND 3-Methylglutaconic aciduria type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000818250.5
Allele description [Variation Report for NM_000116.5(TAFAZZIN):c.238+6C>T]
NM_000116.5(TAFAZZIN):c.238+6C>T
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
-
SRX24948429 (1)
SRA
-
Mus musculus G elongation factor, mitochondrial 2 (Gfm2), transcript variant 3, ...
Mus musculus G elongation factor, mitochondrial 2 (Gfm2), transcript variant 3, mRNA; nuclear gene for mitochondrial productgi|407228372|ref|NM_001271463.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024