NC_012920.1(MT-ND5):m.14051C>T AND Leigh syndrome
- Germline classification:
- Uncertain significance (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:
- RCV000855037.1
Allele description [Variation Report for NC_012920.1(MT-ND5):m.14051C>T]
NC_012920.1(MT-ND5):m.14051C>T
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
-
Homo sapiens protein kinase D1 (PRKD1), RefSeqGene on chromosome 14
Homo sapiens protein kinase D1 (PRKD1), RefSeqGene on chromosome 14gi|1143500074|ref|NG_052879.1|Nucleotide
-
alpha-amylase/alpha-mannosidase [Methanomethylovorans hollandica DSM 15978]
alpha-amylase/alpha-mannosidase [Methanomethylovorans hollandica DSM 15978]gi|433661903|gnl|jgi|Metho_1094|gb| 329.1|Protein
-
BX349893 Homo sapiens NEUROBLASTOMA COT 10-NORMALIZED Homo sapiens cDNA clone CS...
BX349893 Homo sapiens NEUROBLASTOMA COT 10-NORMALIZED Homo sapiens cDNA clone CS0DB005YK04 3-PRIME, mRNA sequencegi|30383448|gnl|dbEST|17861846|emb| 893.1|Nucleotide
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Last Updated: May 19, 2024