NM_000162.5(GCK):c.1182C>T (p.Arg394=) AND Maturity onset diabetes mellitus in young
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 18, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002335303.2
Allele description [Variation Report for NM_000162.5(GCK):c.1182C>T (p.Arg394=)]
NM_000162.5(GCK):c.1182C>T (p.Arg394=)
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
-
Rattus norvegicus neutral sphingomyelinase activation associated factor (Nsmaf) ...
Rattus norvegicus neutral sphingomyelinase activation associated factor (Nsmaf) mRNA, complete cdsgi|30959080|gb|AY163240.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 1, 2024