NM_000162.5(GCK):c.1054del (p.Ile351_Leu352insTer) AND Monogenic diabetes
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003993676.1
Allele description [Variation Report for NM_000162.5(GCK):c.1054del (p.Ile351_Leu352insTer)]
NM_000162.5(GCK):c.1054del (p.Ile351_Leu352insTer)
Condition(s)
- Name:
- Monogenic diabetes
- Identifiers:
- MONDO: MONDO:0015967; MedGen: C3888631
-
RecName: Full=Protein phosphatase 1A; AltName: Full=Protein phosphatase 2C isofo...
RecName: Full=Protein phosphatase 1A; AltName: Full=Protein phosphatase 2C isoform alpha; Short=PP2C-alpha; AltName: Full=Protein phosphatase IAgi|548442|sp|P35813.1|PPM1A_HUMANProtein
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See more...Assertion and evidence details
Last Updated: May 7, 2024