NM_003172.4(SURF1):c.834-19G>A AND Leigh syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001950966.5
Allele description [Variation Report for NM_003172.4(SURF1):c.834-19G>A]
NM_003172.4(SURF1):c.834-19G>A
Condition(s)
- Name:
- Leigh syndrome (LS)
- 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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MBNL3 muscleblind like splicing regulator 3 [Homo sapiens]
MBNL3 muscleblind like splicing regulator 3 [Homo sapiens]Gene ID:55796Gene
-
unnamed protein product [Aplanochytrium sp. PBS07]
unnamed protein product [Aplanochytrium sp. PBS07]gi|2000283480|emb|CAF8507855.1||gnl HBSS|CAF8507855Protein
-
Gene Links for Protein (Select 2217355887) (1)
Gene
-
MEF2C myocyte enhancer factor 2C [Homo sapiens]
MEF2C myocyte enhancer factor 2C [Homo sapiens]Gene ID:4208Gene
-
ESR2 estrogen receptor 2 [Homo sapiens]
ESR2 estrogen receptor 2 [Homo sapiens]Gene ID:2100Gene
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024