NM_004551.3(NDUFS3):c.783T>C (p.Pro261=) AND Mitochondrial complex I deficiency, nuclear type 1
- 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:
- RCV000406732.5
Allele description [Variation Report for NM_004551.3(NDUFS3):c.783T>C (p.Pro261=)]
NM_004551.3(NDUFS3):c.783T>C (p.Pro261=)
Condition(s)
-
Glycerol kinase deficiency effect on brown adipose tissue
Glycerol kinase deficiency effect on brown adipose tissueAccession: GDS2610GEO DataSets
-
Related DataSets for GEO Profiles (Select 35919147) (1)
GEO DataSets
-
dbVar for Gene (Select 27000) (250)
dbVar
-
Homo sapiens DnaJ heat shock protein family (Hsp40) member C2 (DNAJC2), transcri...
Homo sapiens DnaJ heat shock protein family (Hsp40) member C2 (DNAJC2), transcript variant 3, mRNAgi|1890342949|ref|NM_001362667.2|Nucleotide
-
cytochrome oxidase subunit I, partial (mitochondrion) [Agrilus obsoletoguttatus]
cytochrome oxidase subunit I, partial (mitochondrion) [Agrilus obsoletoguttatus]gi|1395249397|gb|AWQ36547.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 26, 2024