NM_005006.7(NDUFS1):c.826C>T (p.Arg276Cys) AND Mitochondrial complex I deficiency, nuclear type 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 11, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001335223.1
Allele description [Variation Report for NM_005006.7(NDUFS1):c.826C>T (p.Arg276Cys)]
NM_005006.7(NDUFS1):c.826C>T (p.Arg276Cys)
Condition(s)
-
Mus musculus RIKEN cDNA 1700029P11 gene (1700029P11Rik), mRNA
Mus musculus RIKEN cDNA 1700029P11 gene (1700029P11Rik), mRNAgi|13384923|ref|NM_025503.1|Nucleotide
-
MAG: RNA-dependent RNA polymerase [Riparynb virus]
MAG: RNA-dependent RNA polymerase [Riparynb virus]gi|2717318980|gb|WZH59170.1|Protein
-
Spondylospinal thoracic dysostosis
Spondylospinal thoracic dysostosisMedGen
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024