NM_133259.4(LRPPRC):c.*996A>G 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:
- RCV001142199.4
Allele description [Variation Report for NM_133259.4(LRPPRC):c.*996A>G]
NM_133259.4(LRPPRC):c.*996A>G
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
-
Infarct volume-variant inbred strains at two developmental stages: cerebral cort...
Infarct volume-variant inbred strains at two developmental stages: cerebral cortexAccession: GDS5270GEO DataSets
-
Related DataSets for GEO Profiles (Select 119994516) (1)
GEO DataSets
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Dec 24, 2023