NM_172250.3(MMAA):c.347A>G (p.Lys116Arg) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002546809.2
Allele description [Variation Report for NM_172250.3(MMAA):c.347A>G (p.Lys116Arg)]
NM_172250.3(MMAA):c.347A>G (p.Lys116Arg)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Homo sapiens iron-sulfur cluster assembly factor IBA57 (IBA57), transcript varia...
Homo sapiens iron-sulfur cluster assembly factor IBA57 (IBA57), transcript variant 1, mRNA; nuclear gene for mitochondrial productgi|1519245313|ref|NM_001010867.4|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024