NM_133259.4(LRPPRC):c.*1665C>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:
- RCV000292352.5
Allele description [Variation Report for NM_133259.4(LRPPRC):c.*1665C>G]
NM_133259.4(LRPPRC):c.*1665C>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
-
HIV-1 isolate SHCS525 from Switzerland polymerase gene, partial cds
HIV-1 isolate SHCS525 from Switzerland polymerase gene, partial cdsgi|357064152|gb|JN991207.1|Nucleotide
-
Pseudoleptobothrium aptychotremae isolate P15TspANC cytochrome b (cytb) gene, pa...
Pseudoleptobothrium aptychotremae isolate P15TspANC cytochrome b (cytb) gene, partial cds; mitochondrialgi|198088458|gb|EU795573.1|Nucleotide
-
dihydropteroate synthase [Rahnella aquatilis CIP 78.65 = ATCC 33071]
dihydropteroate synthase [Rahnella aquatilis CIP 78.65 = ATCC 33071]gi|371586711|gnl|jgi|Rahaq2_0507|gb 0441.1|Protein
-
ATG7 [Piliocolobus tephrosceles]
ATG7 [Piliocolobus tephrosceles]Gene ID:111546916Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Dec 24, 2023