NC_012920.1(MT-CYB):m.14871T>C AND Leigh syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 17, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000855175.1
Allele description [Variation Report for NC_012920.1(MT-CYB):m.14871T>C]
NC_012920.1(MT-CYB):m.14871T>C
Condition(s)
- Name:
- Leigh syndrome (NULS)
- Synonyms:
- Leigh Disease; Subacute necrotizing encephalopathy; Necrotizing encephalopathy infantile subacute of Leigh; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009723; MedGen: C0023264; Orphanet: 506; OMIM: 256000
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Homo sapiens mRNA for KIAA0699 protein, partial cds
Homo sapiens mRNA for KIAA0699 protein, partial cdsgi|3327211|dbj|AB014599.1|Nucleotide
-
Homo sapiens regulator of G protein signaling 3 (RGS3), transcript variant 14, m...
Homo sapiens regulator of G protein signaling 3 (RGS3), transcript variant 14, mRNAgi|2021882940|ref|NM_001394167.1|Nucleotide
-
PREDICTED: Macaca fascicularis dipeptidase 2 (DPEP2), transcript variant X4, mRN...
PREDICTED: Macaca fascicularis dipeptidase 2 (DPEP2), transcript variant X4, mRNAgi|2739291773|ref|XM_045382676.2|Nucleotide
-
ST6GAL2 [Ornithorhynchus anatinus]
ST6GAL2 [Ornithorhynchus anatinus]Gene ID:100077134Gene
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Last Updated: May 19, 2024