NC_012920.1(MT-CYB):m.12213G>A 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:
- RCV000851043.1
Allele description [Variation Report for NC_012920.1(MT-CYB):m.12213G>A]
NC_012920.1(MT-CYB):m.12213G>A
Condition(s)
-
Homo sapiens transmembrane protein 134, mRNA (cDNA clone IMAGE:6514633), with ap...
Homo sapiens transmembrane protein 134, mRNA (cDNA clone IMAGE:6514633), with apparent retained introngi|30704875|gb|BC051854.1|Nucleotide
-
Synthetic construct Homo sapiens clone IMAGE:100015596, MGC:183116 fidgetin (FIG...
Synthetic construct Homo sapiens clone IMAGE:100015596, MGC:183116 fidgetin (FIGN) mRNA, encodes complete proteingi|151556525|gb|BC148649.1|Nucleotide
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Last Updated: Dec 11, 2022