NM_001199397.3(NEK1):c.3410T>C (p.Leu1137Pro) AND Asphyxiating thoracic dystrophy 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 5, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000662209.4
Allele description [Variation Report for NM_001199397.3(NEK1):c.3410T>C (p.Leu1137Pro)]
NM_001199397.3(NEK1):c.3410T>C (p.Leu1137Pro)
Condition(s)
-
acyl-CoA dehydrogenase family protein [Nitriliruptor alkaliphilus]
acyl-CoA dehydrogenase family protein [Nitriliruptor alkaliphilus]gi|919108473|ref|WP_052664116.1|Protein
-
signal-induced proliferation-associated 1-like protein 3 [Homo sapiens]
signal-induced proliferation-associated 1-like protein 3 [Homo sapiens]gi|71143119|ref|NP_055888.1|Protein
-
RecName: Full=Mitochondrial nicotinamide adenine dinucleotide transporter SLC25A...
RecName: Full=Mitochondrial nicotinamide adenine dinucleotide transporter SLC25A51; AltName: Full=Mitochondrial NAD(+) transporter SLC25A51; AltName: Full=Mitochondrial carrier triple repeat protein 1; AltName: Full=Solute carrier family 25 member 51gi|38605048|sp|Q9H1U9.1|S2551_HUMANProtein
-
LOC18593378 [Theobroma cacao]
LOC18593378 [Theobroma cacao]Gene ID:18593378Gene
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Last Updated: Dec 11, 2022