NC_012920.1(MT-ATP6):m.9079A>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:
- RCV000854424.1
Allele description [Variation Report for NC_012920.1(MT-ATP6):m.9079A>G]
NC_012920.1(MT-ATP6):m.9079A>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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CCDC18-AS1 CCDC18 antisense RNA 1 [Homo sapiens]
CCDC18-AS1 CCDC18 antisense RNA 1 [Homo sapiens]Gene ID:100131564Gene
-
Gene Links for GEO Profiles (Select 88639528) (1)
Gene
-
SFXN1 sideroflexin 1 [Homo sapiens]
SFXN1 sideroflexin 1 [Homo sapiens]Gene ID:94081Gene
-
Gene Links for GEO Profiles (Select 88639524) (1)
Gene
-
Homo sapiens cDNA FLJ50535 complete cds
Homo sapiens cDNA FLJ50535 complete cdsgi|221040959|dbj|AK295690.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 19, 2024