NM_007103.4(NDUFV1):c.563G>A (p.Gly188Asp) AND Leigh syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000383441.5
Allele description [Variation Report for NM_007103.4(NDUFV1):c.563G>A (p.Gly188Asp)]
NM_007103.4(NDUFV1):c.563G>A (p.Gly188Asp)
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
-
PREDICTED: Homo sapiens RAB11 family interacting protein 3 (RAB11FIP3), transcri...
PREDICTED: Homo sapiens RAB11 family interacting protein 3 (RAB11FIP3), transcript variant X1, mRNAgi|2217308368|ref|XM_017023907.2|Nucleotide
-
SLC25A13 [Calidris pugnax]
SLC25A13 [Calidris pugnax]Gene ID:106886972Gene
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Last Updated: Sep 1, 2024