NM_002591.4(PCK1):c.1735A>C (p.Ser579Arg) AND Phosphoenolpyruvate carboxykinase deficiency, cytosolic
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000381354.5
Allele description [Variation Report for NM_002591.4(PCK1):c.1735A>C (p.Ser579Arg)]
NM_002591.4(PCK1):c.1735A>C (p.Ser579Arg)
Condition(s)
-
tRNA-dihydrouridine(20a/20b) synthase [NAD(P)+]-like [Homo sapiens]
tRNA-dihydrouridine(20a/20b) synthase [NAD(P)+]-like [Homo sapiens]gi|394025765|ref|NP_001257348.1|Protein
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GTP-binding protein Di-Ras1 [Homo sapiens]
GTP-binding protein Di-Ras1 [Homo sapiens]gi|21553323|ref|NP_660156.1|Protein
-
Chromosome neighbors for GEO Profiles (Select 104002914) (20)
GEO Profiles
-
Gene Links for GEO Profiles (Select 104005132) (1)
Gene
-
Ndfip2 Nedd4 family interacting protein 2 [Rattus norvegicus]
Ndfip2 Nedd4 family interacting protein 2 [Rattus norvegicus]Gene ID:361089Gene
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Last Updated: Sep 29, 2024