NM_133259.4(LRPPRC):c.*1816T>C AND Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- 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:
- RCV000279438.2
Allele description
NM_133259.4(LRPPRC):c.*1816T>C
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
-
PREDICTED: Homo sapiens SS18L1 subunit of BAF chromatin remodeling complex (SS18...
PREDICTED: Homo sapiens SS18L1 subunit of BAF chromatin remodeling complex (SS18L1), transcript variant X1, mRNAgi|2217334963|ref|XM_005260389.4|Nucleotide
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Last Updated: Nov 29, 2021