NM_002591.4(PCK1):c.824del (p.Gly275fs) AND Phosphoenolpyruvate carboxykinase deficiency, cytosolic
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 21, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000779351.5
Allele description [Variation Report for NM_002591.4(PCK1):c.824del (p.Gly275fs)]
NM_002591.4(PCK1):c.824del (p.Gly275fs)
Condition(s)
-
Mus musculus transmembrane phosphatase with tensin homology (Tpte), mRNA
Mus musculus transmembrane phosphatase with tensin homology (Tpte), mRNAgi|269784763|ref|NM_199257.2|Nucleotide
-
Sequence 25 from Patent WO2008126002
Sequence 25 from Patent WO2008126002gi|218055950|emb|GM868985.1||pat|WO 126002|25Nucleotide
-
Chain A, HUMAN SIGNAL RECOGNITION PARTICLE 54 KD PROTEIN
Chain A, HUMAN SIGNAL RECOGNITION PARTICLE 54 KD PROTEINgi|6435762|pdb|1QB2|AProtein
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Last Updated: Aug 4, 2024