NM_000162.5(GCK):c.491T>C (p.Leu164Pro) AND Maturity onset diabetes mellitus in young
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003127763.2
Allele description [Variation Report for NM_000162.5(GCK):c.491T>C (p.Leu164Pro)]
NM_000162.5(GCK):c.491T>C (p.Leu164Pro)
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
-
Gene Fusion
Gene FusionThe GENETIC RECOMBINATION of the parts of two or more GENES resulting in a gene with different or additional regulatory regions, or a new chimeric gene product. ONCOGENE FUSIO...<br/>Year introduced: 2006MeSH
-
Bladder Exstrophy
Bladder ExstrophyA birth defect in which the URINARY BLADDER is malformed and exposed, inside out, and protruded through the ABDOMINAL WALL. It is caused by closure defects involving the top f...<br/>Year introduced: 1965(1963)MeSH
-
Epispadias
EpispadiasA birth defect due to malformation of the URETHRA in which the urethral opening is above its normal location. In the male, the malformed urethra generally opens on the top or ...<br/>MeSH
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Last Updated: May 7, 2024