NM_000162.5(GCK):c.1151C>T (p.Ala384Val) 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:
- RCV002463760.1
Allele description [Variation Report for NM_000162.5(GCK):c.1151C>T (p.Ala384Val)]
NM_000162.5(GCK):c.1151C>T (p.Ala384Val)
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
-
olfactomedin-like protein 1 isoform a precursor [Homo sapiens]
olfactomedin-like protein 1 isoform a precursor [Homo sapiens]gi|284172520|ref|NP_940876.2|Protein
-
gtf3c6 general transcription factor IIIC, polypeptide 6, alpha [Danio rerio]
gtf3c6 general transcription factor IIIC, polypeptide 6, alpha [Danio rerio]Gene ID:393232Gene
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Last Updated: Jun 23, 2024