NM_000162.5(GCK):c.1327G>T (p.Glu443Ter) AND Maturity onset diabetes mellitus in young
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002463729.2
Allele description [Variation Report for NM_000162.5(GCK):c.1327G>T (p.Glu443Ter)]
NM_000162.5(GCK):c.1327G>T (p.Glu443Ter)
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
-
Homo sapiens SNF8 subunit of ESCRT-II (SNF8), transcript variant 1, mRNA
Homo sapiens SNF8 subunit of ESCRT-II (SNF8), transcript variant 1, mRNAgi|1653962012|ref|NM_007241.4|Nucleotide
-
JGI_CABH4231.rev NIH_XGC_tropSkeMus1 Xenopus tropicalis cDNA clone IMAGE:7847979...
JGI_CABH4231.rev NIH_XGC_tropSkeMus1 Xenopus tropicalis cDNA clone IMAGE:7847979 3', mRNA sequencegi|74031558|gnl|dbEST|31182213|gb|D 59.1|Nucleotide
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Last Updated: May 7, 2024