NM_000162.5(GCK):c.627GAT[3] (p.Met210_Ile211insMet) AND Maturity onset diabetes mellitus in young
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 18, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002368789.3
Allele description [Variation Report for NM_000162.5(GCK):c.627GAT[3] (p.Met210_Ile211insMet)]
NM_000162.5(GCK):c.627GAT[3] (p.Met210_Ile211insMet)
Condition(s)
- Name:
- Maturity onset diabetes mellitus in young (MODY)
- Synonyms:
- Mason type diabetes
- Identifiers:
- MONDO: MONDO:0018911; MedGen: C0342276; Orphanet: 552; OMIM: 606391; Human Phenotype Ontology: HP:0004904
-
RecName: Full=C-type lectin domain family 11 member A; AltName: Full=C-type lect...
RecName: Full=C-type lectin domain family 11 member A; AltName: Full=C-type lectin superfamily member 3; AltName: Full=Lymphocyte secreted C-type lectin; AltName: Full=Osteolectin; AltName: Full=Stem cell growth factor; AltName: Full=p47; Flags: Precursorgi|34223087|sp|Q9Y240.1|CLC11_HUMANProtein
-
RecName: Full=Epsin-1; AltName: Full=EH domain-binding mitotic phosphoprotein; A...
RecName: Full=Epsin-1; AltName: Full=EH domain-binding mitotic phosphoprotein; AltName: Full=EPS-15-interacting protein 1gi|332278179|sp|Q9Y6I3.2|EPN1_HUMANProtein
-
AKAP10 [Mauremys mutica]
AKAP10 [Mauremys mutica]Gene ID:123353091Gene
-
AKAP10 [Calypte anna]
AKAP10 [Calypte anna]Gene ID:103529704Gene
-
PCYB_071700 [Plasmodium cynomolgi strain B]
PCYB_071700 [Plasmodium cynomolgi strain B]Gene ID:14692016Gene
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See more...Assertion and evidence details
Last Updated: Aug 18, 2024