NC_012920.1(MT-CYB):m.5693T>C AND Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 12, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000850833.1
Allele description [Variation Report for NC_012920.1(MT-CYB):m.5693T>C]
NC_012920.1(MT-CYB):m.5693T>C
Condition(s)
-
cytochrome c oxidase subunit I, partial (mitochondrion) [Cosmocampus balli]
cytochrome c oxidase subunit I, partial (mitochondrion) [Cosmocampus balli]gi|1143650585|gb|AQM57359.1|Protein
-
substrate-binding domain-containing protein [Mycoplasmoides pneumoniae]
substrate-binding domain-containing protein [Mycoplasmoides pneumoniae]gi|2111386773|ref|WP_225971123.1|Protein
-
DUF16 domain-containing protein [Mycoplasmoides pneumoniae]
DUF16 domain-containing protein [Mycoplasmoides pneumoniae]gi|2111386832|ref|WP_225971172.1|Protein
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See more...Assertion and evidence details
Last Updated: Dec 11, 2022