NM_005726.6(TSFM):c.814G>C (p.Asp272His) AND Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000342324.7
Allele description [Variation Report for NM_005726.6(TSFM):c.814G>C (p.Asp272His)]
NM_005726.6(TSFM):c.814G>C (p.Asp272His)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024