NM_012123.4(MTO1):c.552A>G (p.Val184=) AND Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001342996.6
Allele description [Variation Report for NM_012123.4(MTO1):c.552A>G (p.Val184=)]
NM_012123.4(MTO1):c.552A>G (p.Val184=)
Condition(s)
- Name:
- Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
- Synonyms:
- CARDIOMYOPATHY, INFANTILE HYPERTROPHIC MITOCHONDRIAL, AND LACTIC ACIDOSIS; Combined oxidative phosphorylation deficiency 10
- Identifiers:
- MONDO: MONDO:0013865; MedGen: C4749921; Orphanet: 314637; OMIM: 614702
-
RSC1A1 regulator of solute carriers 1 [Homo sapiens]
RSC1A1 regulator of solute carriers 1 [Homo sapiens]Gene ID:6248Gene
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Last Updated: May 12, 2024