NM_133259.4(LRPPRC):c.2806-110C>A AND Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jul 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001543271.2
Allele description [Variation Report for NM_133259.4(LRPPRC):c.2806-110C>A]
NM_133259.4(LRPPRC):c.2806-110C>A
Condition(s)
- Name:
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type (MC4DN5)
- Synonyms:
- Leigh syndrome, French Canadian type; Cox deficiency, French Canadian type; Cox deficiency, Saguenay Lac saint Jean type; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009069; MedGen: C1857355; Orphanet: 70472; OMIM: 220111
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txid72036[orgn] AND "isolate LsRF12"[All Fields] (4)
Nucleotide
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HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 [Homo sapiens...
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 [Homo sapiens]Gene ID:8924Gene
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Gene Links for Protein (Select 2462546389) (1)
Gene
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PREDICTED: Homo sapiens STAG3 cohesin complex component (STAG3), transcript vari...
PREDICTED: Homo sapiens STAG3 cohesin complex component (STAG3), transcript variant X13, mRNAgi|2217365369|ref|XM_017011687.2|Nucleotide
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Similar studies for GEO DataSets (Select 200171165) (6)
GEO DataSets
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Last Updated: Dec 24, 2023