NC_012920.1(MT-ND2):m.4689A>G 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:
- RCV000853795.1
Allele description [Variation Report for NC_012920.1(MT-ND2):m.4689A>G]
NC_012920.1(MT-ND2):m.4689A>G
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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Hieracium canadense isolate canad tRNA-Thr gene, partial sequence; trnT-trnL int...
Hieracium canadense isolate canad tRNA-Thr gene, partial sequence; trnT-trnL intergenic spacer, complete sequence; and tRNA-Leu gene, partial sequence; chloroplastgi|45934868|gb|AY573341.1|Nucleotide
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DNAH7[gene] (476)
ClinVar
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PREDICTED: Homo sapiens dynein axonemal heavy chain 7 (DNAH7), transcript varian...
PREDICTED: Homo sapiens dynein axonemal heavy chain 7 (DNAH7), transcript variant X4, mRNAgi|2217329616|ref|XM_017004504.3|Nucleotide
-
dynein axonemal heavy chain 7 isoform X6 [Homo sapiens]
dynein axonemal heavy chain 7 isoform X6 [Homo sapiens]gi|2462575298|ref|XP_054198999.1|Protein
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dynein axonemal heavy chain 7 isoform X7 [Homo sapiens]
dynein axonemal heavy chain 7 isoform X7 [Homo sapiens]gi|2462575300|ref|XP_054199000.1|Protein
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Last Updated: May 19, 2024