NC_012920.1(MT-ATP6):m.8932C>T AND Leigh syndrome
- Germline classification:
- 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:
- RCV000854366.1
Allele description [Variation Report for NC_012920.1(MT-ATP6):m.8932C>T]
NC_012920.1(MT-ATP6):m.8932C>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
-
Synthetic construct Homo sapiens clone IMAGE:100069234, MGC:199245 heparan sulfa...
Synthetic construct Homo sapiens clone IMAGE:100069234, MGC:199245 heparan sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6) mRNA, encodes complete proteingi|225000901|gb|BC172540.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 19, 2024