NM_000162.5(GCK):c.535A>G (p.Asn179Asp) AND Maturity onset diabetes mellitus in young
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 7, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002347008.2
Allele description [Variation Report for NM_000162.5(GCK):c.535A>G (p.Asn179Asp)]
NM_000162.5(GCK):c.535A>G (p.Asn179Asp)
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
-
Mus musculus prolactin family 7, subfamily a, member 1 (Prl7a1), transcript vari...
Mus musculus prolactin family 7, subfamily a, member 1 (Prl7a1), transcript variant 1, mRNAgi|255708466|ref|NM_001164058.1|Nucleotide
-
prolactin-7A1 isoform 1 precursor [Mus musculus]
prolactin-7A1 isoform 1 precursor [Mus musculus]gi|255708467|ref|NP_001157530.1|Protein
-
Medical Informatics Applications
Medical Informatics ApplicationsAutomated systems applied to the patient care process including diagnosis, therapy, and systems of communicating medical data within the health care setting....<br/>Year introduced: 1987MeSH
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Datasets as Topic
Datasets as TopicSubject matter related to the curation of data from research projects, stored permanently in a formalized manner suitable for communication, interpretation, or processing....<br/>Year introduced: 2015MeSH
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Last Updated: May 1, 2024