NM_004453.4(ETFDH):c.108T>G (p.Thr36=) AND Multiple acyl-CoA dehydrogenase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 2, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002144948.6
Allele description [Variation Report for NM_004453.4(ETFDH):c.108T>G (p.Thr36=)]
NM_004453.4(ETFDH):c.108T>G (p.Thr36=)
Condition(s)
- Name:
- Multiple acyl-CoA dehydrogenase deficiency (MADD)
- Synonyms:
- GA II; Ethylmalonic-adipicaciduria; Glutaric aciduria, type 2; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009282; MedGen: C0268596; Orphanet: 26791; OMIM: 231680
-
PREDICTED: Mus musculus IKAROS family zinc finger 1 (Ikzf1), transcript variant ...
PREDICTED: Mus musculus IKAROS family zinc finger 1 (Ikzf1), transcript variant X23, mRNAgi|1720365875|ref|XM_011243718.2|Nucleotide
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Last Updated: Sep 29, 2024