NM_000162.5(GCK):c.1190_1253+11dup AND Maturity onset diabetes mellitus in young
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003330060.2
Allele description [Variation Report for NM_000162.5(GCK):c.1190_1253+11dup]
NM_000162.5(GCK):c.1190_1253+11dup
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
-
LOC4343049 [Oryza sativa Japonica Group]
LOC4343049 [Oryza sativa Japonica Group]Gene ID:4343049Gene
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024